PanelApp

Activity

Filter

Cancel
Date Panel Item Activity
1079 actions
Additional findings_Paediatric v0.2 SHH Zornitza Stark gene: SHH was added
gene: SHH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SHH were set to Holoprosencephaly-3
Additional findings_Paediatric v0.2 SHANK3 Zornitza Stark gene: SHANK3 was added
gene: SHANK3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SHANK3 were set to Phelan-McDermid syndrome
Additional findings_Paediatric v0.2 SH3TC2 Zornitza Stark gene: SH3TC2 was added
gene: SH3TC2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SH3TC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SH3TC2 were set to Charcot-Marie-Tooth disease
Additional findings_Paediatric v0.2 SH2D1A Zornitza Stark gene: SH2D1A was added
gene: SH2D1A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SH2D1A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SH2D1A were set to Lymphoproliferative syndrome
Additional findings_Paediatric v0.2 SGSH Zornitza Stark gene: SGSH was added
gene: SGSH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGSH were set to Mucopolysaccharidisis type IIIA (Sanfilippo A)
Additional findings_Paediatric v0.2 SGCG Zornitza Stark gene: SGCG was added
gene: SGCG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SGCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCG were set to Muscular dystrophy, limb-girdle, type 2C
Additional findings_Paediatric v0.2 SGCD Zornitza Stark gene: SGCD was added
gene: SGCD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SGCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCD were set to Muscular dystrophy, limb-girdle, type 2F
Additional findings_Paediatric v0.2 SGCB Zornitza Stark gene: SGCB was added
gene: SGCB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SGCB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCB were set to Muscular dystrophy, limb-girdle, type 2E
Additional findings_Paediatric v0.2 SGCA Zornitza Stark gene: SGCA was added
gene: SGCA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCA were set to Muscular dystrophy, limb-girdle, type 2D
Additional findings_Paediatric v0.2 SFTPB Zornitza Stark gene: SFTPB was added
gene: SFTPB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SFTPB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SFTPB were set to Surfactant metabolism dysfunction, pulmonary
Additional findings_Paediatric v0.2 SETX Zornitza Stark gene: SETX was added
gene: SETX was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SETX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SETX were set to Ataxia-ocular apraxia 2
Additional findings_Paediatric v0.2 SETBP1 Zornitza Stark gene: SETBP1 was added
gene: SETBP1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SETBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SETBP1 were set to Schinzel-Giedion syndrome
Additional findings_Paediatric v0.2 SEPT9 Zornitza Stark gene: SEPT9 was added
gene: SEPT9 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SEPT9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SEPT9 were set to Amyotrophy, hereditary neuralgic
Additional findings_Paediatric v0.2 SELENON Zornitza Stark gene: SELENON was added
gene: SELENON was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SELENON was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SELENON were set to Myopathy, congenital, with fiber-type disproportion; Muscular dystrophy, rigid spine
Additional findings_Paediatric v0.2 SDHD Zornitza Stark gene: SDHD was added
gene: SDHD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SDHD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHD were set to Hereditary Paraganglioma-Pheochromocytoma Syndromes
Additional findings_Paediatric v0.2 SCO2 Zornitza Stark gene: SCO2 was added
gene: SCO2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO2 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency
Additional findings_Paediatric v0.2 SCNN1B Zornitza Stark gene: SCNN1B was added
gene: SCNN1B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SCNN1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCNN1B were set to Pseudohypoaldosteronism
Additional findings_Paediatric v0.2 SCNN1A Zornitza Stark gene: SCNN1A was added
gene: SCNN1A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SCNN1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCNN1A were set to Pseudohypoaldosteronism
Additional findings_Paediatric v0.2 SCN4A Zornitza Stark gene: SCN4A was added
gene: SCN4A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SCN4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN4A were set to Hyperkalemic periodic paralysis, type 2
Additional findings_Paediatric v0.2 SCN1A Zornitza Stark gene: SCN1A was added
gene: SCN1A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SCN1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCN1A were set to Dravet syndrome
Additional findings_Paediatric v0.2 SCN11A Zornitza Stark gene: SCN11A was added
gene: SCN11A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN11A were set to Episodic pain syndrome
Additional findings_Paediatric v0.2 SBDS Zornitza Stark gene: SBDS was added
gene: SBDS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SBDS were set to Shwachman-Bodian-Diamond syndrome
Additional findings_Paediatric v0.2 SAMHD1 Zornitza Stark gene: SAMHD1 was added
gene: SAMHD1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome
Additional findings_Paediatric v0.2 SALL1 Zornitza Stark gene: SALL1 was added
gene: SALL1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SALL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SALL1 were set to Townes-Brocks syndrome
Additional findings_Paediatric v0.2 SACS Zornitza Stark gene: SACS was added
gene: SACS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SACS were set to Spastic ataxia Charlevoix-Saguenay type
Additional findings_Paediatric v0.2 RYR2 Zornitza Stark Added phenotypes Ventricular tachycardia, catecholaminergic polymorphic for gene: RYR2
Additional findings_Paediatric v0.2 RYR2 Zornitza Stark gene: RYR2 was added
gene: RYR2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RYR2 were set to Arrhythmogenic right ventricular dysplasia 2
Additional findings_Paediatric v0.2 RYR1 Zornitza Stark Added phenotypes Multiminicore disease for gene: RYR1
Additional findings_Paediatric v0.2 RYR1 Zornitza Stark Mode of inheritance for gene RYR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Centronuclear myopathy for gene: RYR1
Additional findings_Paediatric v0.2 RYR1 Zornitza Stark gene: RYR1 was added
gene: RYR1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RYR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RYR1 were set to Central core disease
Additional findings_Paediatric v0.2 RUNX2 Zornitza Stark gene: RUNX2 was added
gene: RUNX2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RUNX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RUNX2 were set to Cleidocranial dysostosis
Additional findings_Paediatric v0.2 RSPH9 Zornitza Stark gene: RSPH9 was added
gene: RSPH9 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RSPH9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPH9 were set to Ciliary dyskinesia, primary
Additional findings_Paediatric v0.2 RSPH4A Zornitza Stark gene: RSPH4A was added
gene: RSPH4A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RSPH4A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPH4A were set to Ciliary dyskinesia, primary
Additional findings_Paediatric v0.2 RS1 Zornitza Stark gene: RS1 was added
gene: RS1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RS1 were set to Retinoschisis, X linked
Additional findings_Paediatric v0.2 RRM2B Zornitza Stark gene: RRM2B was added
gene: RRM2B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RRM2B were set to Mitochondrial DNA depletion syndrome
Additional findings_Paediatric v0.2 RPS6KA3 Zornitza Stark gene: RPS6KA3 was added
gene: RPS6KA3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RPS6KA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RPS6KA3 were set to Coffin-Lowry syndrome
Additional findings_Paediatric v0.2 RPS26 Zornitza Stark gene: RPS26 was added
gene: RPS26 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPS26 were set to Diamond-Blackfan anemia
Additional findings_Paediatric v0.2 RPS24 Zornitza Stark gene: RPS24 was added
gene: RPS24 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RPS24 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPS24 were set to Diamond-Blackfan anemia
Additional findings_Paediatric v0.2 RPS19 Zornitza Stark gene: RPS19 was added
gene: RPS19 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RPS19 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPS19 were set to Diamond-Blackfan anemia
Additional findings_Paediatric v0.2 RPS17 Zornitza Stark gene: RPS17 was added
gene: RPS17 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RPS17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPS17 were set to Diamond-Blackfan anemia
Additional findings_Paediatric v0.2 RPS15 Zornitza Stark gene: RPS15 was added
gene: RPS15 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RPS15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPS15 were set to Diamond-Blackfan anemia
Additional findings_Paediatric v0.2 RPL5 Zornitza Stark gene: RPL5 was added
gene: RPL5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RPL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPL5 were set to Diamond-Blackfan anemia
Additional findings_Paediatric v0.2 RPL11 Zornitza Stark gene: RPL11 was added
gene: RPL11 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RPL11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPL11 were set to Diamond-Blackfan anemia
Additional findings_Paediatric v0.2 RPGRIP1L Zornitza Stark Added phenotypes Joubert syndrome for gene: RPGRIP1L
Additional findings_Paediatric v0.2 RPGRIP1L Zornitza Stark gene: RPGRIP1L was added
gene: RPGRIP1L was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1L were set to Meckel syndrome
Additional findings_Paediatric v0.2 RPGR Zornitza Stark gene: RPGR was added
gene: RPGR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RPGR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RPGR were set to Retinitis pigmentosa
Additional findings_Paediatric v0.2 ROR2 Zornitza Stark Mode of inheritance for gene ROR2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Brachydactyly, type B1 for gene: ROR2
Additional findings_Paediatric v0.2 ROR2 Zornitza Stark gene: ROR2 was added
gene: ROR2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ROR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ROR2 were set to Robinow syndrome
Additional findings_Paediatric v0.2 RNASEH2C Zornitza Stark gene: RNASEH2C was added
gene: RNASEH2C was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2C were set to Aicardi-Goutieres syndrome
Additional findings_Paediatric v0.2 RNASEH2B Zornitza Stark gene: RNASEH2B was added
gene: RNASEH2B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2B were set to Aicardi-Goutieres syndrome
Additional findings_Paediatric v0.2 RNASEH2A Zornitza Stark gene: RNASEH2A was added
gene: RNASEH2A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2A were set to Aicardi-Goutieres syndrome
Additional findings_Paediatric v0.2 RMRP Zornitza Stark gene: RMRP was added
gene: RMRP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RMRP were set to Cartilage-hair hypoplasia
Additional findings_Paediatric v0.2 RET Zornitza Stark Added phenotypes Multiple endocrine neoplasia IIB for gene: RET
Additional findings_Paediatric v0.2 RET Zornitza Stark gene: RET was added
gene: RET was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RET were set to Multiple endocrine neoplasia IIA
Additional findings_Paediatric v0.2 REN Zornitza Stark gene: REN was added
gene: REN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: REN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: REN were set to Renal tubular dysgenesis
Additional findings_Paediatric v0.2 RECQL4 Zornitza Stark Added phenotypes Rothmund-Thomson syndrome for gene: RECQL4
Additional findings_Paediatric v0.2 RECQL4 Zornitza Stark Added phenotypes Rapadilino syndrome for gene: RECQL4
Additional findings_Paediatric v0.2 RECQL4 Zornitza Stark gene: RECQL4 was added
gene: RECQL4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RECQL4 were set to Baller-Gerold syndrome
Additional findings_Paediatric v0.2 RBM8A Zornitza Stark gene: RBM8A was added
gene: RBM8A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBM8A were set to Thrombocytopaenia-absent radius syndrome
Additional findings_Paediatric v0.2 RB1 Zornitza Stark gene: RB1 was added
gene: RB1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RB1 were set to Retinoblastoma
Additional findings_Paediatric v0.2 RASA1 Zornitza Stark gene: RASA1 was added
gene: RASA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RASA1 were set to Capillary malformation-arteriovenous malformation
Additional findings_Paediatric v0.2 RAPSN Zornitza Stark gene: RAPSN was added
gene: RAPSN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAPSN were set to Congenital myasthenic syndrome
Additional findings_Paediatric v0.2 RAI1 Zornitza Stark Added phenotypes Potocki-Lupski syndrome for gene: RAI1
Additional findings_Paediatric v0.2 RAI1 Zornitza Stark gene: RAI1 was added
gene: RAI1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RAI1 were set to Smith-Magenis syndrome
Additional findings_Paediatric v0.2 RAG2 Zornitza Stark gene: RAG2 was added
gene: RAG2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RAG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAG2 were set to Omenn syndrome
Additional findings_Paediatric v0.2 RAG1 Zornitza Stark gene: RAG1 was added
gene: RAG1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAG1 were set to Omenn syndrome
Additional findings_Paediatric v0.2 RAF1 Zornitza Stark gene: RAF1 was added
gene: RAF1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RAF1 were set to Noonan syndrome
Additional findings_Paediatric v0.2 RAB7A Zornitza Stark gene: RAB7A was added
gene: RAB7A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RAB7A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RAB7A were set to Charcot-Marie-Tooth disease
Additional findings_Paediatric v0.2 RAB3GAP1 Zornitza Stark gene: RAB3GAP1 was added
gene: RAB3GAP1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB3GAP1 were set to Warburg micro syndrome
Additional findings_Paediatric v0.2 RAB27A Zornitza Stark gene: RAB27A was added
gene: RAB27A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RAB27A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB27A were set to Griscelli syndrome
Additional findings_Paediatric v0.2 RAB23 Zornitza Stark gene: RAB23 was added
gene: RAB23 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RAB23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB23 were set to Carpenter syndrome
Additional findings_Paediatric v0.2 QDPR Zornitza Stark gene: QDPR was added
gene: QDPR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: QDPR were set to Dihydropteridine reductase deficiency
Additional findings_Paediatric v0.2 PYGL Zornitza Stark gene: PYGL was added
gene: PYGL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PYGL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYGL were set to Glycogen storage disease VI
Additional findings_Paediatric v0.2 PTS Zornitza Stark gene: PTS was added
gene: PTS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTS were set to Hyperphenylalaninemia, BH4-deficient, A
Additional findings_Paediatric v0.2 CAVIN1 Zornitza Stark gene: CAVIN1 was added
gene: CAVIN1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CAVIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAVIN1 were set to Lipodystrophy, congenital generalized, type 4
Additional findings_Paediatric v0.2 PTPN11 Zornitza Stark gene: PTPN11 was added
gene: PTPN11 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTPN11 were set to Noonan syndrome
Additional findings_Paediatric v0.2 PTH1R Zornitza Stark gene: PTH1R was added
gene: PTH1R was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PTH1R was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTH1R were set to Metaphyseal chondrodysplasia
Additional findings_Paediatric v0.2 PTEN Zornitza Stark Added phenotypes Bannayan-Riley-Ruvalcaba syndrome for gene: PTEN
Additional findings_Paediatric v0.2 PTEN Zornitza Stark gene: PTEN was added
gene: PTEN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTEN were set to Cowden disease
Additional findings_Paediatric v0.2 PTCH1 Zornitza Stark gene: PTCH1 was added
gene: PTCH1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTCH1 were set to Nevoid basal cell carcinoma syndrome
Additional findings_Paediatric v0.2 PSAP Zornitza Stark gene: PSAP was added
gene: PSAP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSAP were set to Metachromatic leukodystrophy
Additional findings_Paediatric v0.2 PRX Zornitza Stark gene: PRX was added
gene: PRX was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PRX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRX were set to Charcot-Marie-Tooth disease
Additional findings_Paediatric v0.2 PROS1 Zornitza Stark gene: PROS1 was added
gene: PROS1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PROS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PROS1 were set to Protein S deficiency
Additional findings_Paediatric v0.2 PROP1 Zornitza Stark gene: PROP1 was added
gene: PROP1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PROP1 were set to Pituitary hormone deficiency, combined, 2
Additional findings_Paediatric v0.2 PROKR2 Zornitza Stark gene: PROKR2 was added
gene: PROKR2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PROKR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PROKR2 were set to Hypogonadotropic hypogonadism
Additional findings_Paediatric v0.2 PROC Zornitza Stark gene: PROC was added
gene: PROC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PROC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PROC were set to Thrombophilia due to protein C deficiency
Additional findings_Paediatric v0.2 PRKAR1A Zornitza Stark gene: PRKAR1A was added
gene: PRKAR1A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRKAR1A were set to Carney complex
Additional findings_Paediatric v0.2 PRKAG2 Zornitza Stark gene: PRKAG2 was added
gene: PRKAG2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRKAG2 were set to Wolff-Parkinson-White syndrome
Additional findings_Paediatric v0.2 PRF1 Zornitza Stark gene: PRF1 was added
gene: PRF1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRF1 were set to Hemophagocytic lymphohistiocytosis, familial, 2
Additional findings_Paediatric v0.2 PQBP1 Zornitza Stark gene: PQBP1 was added
gene: PQBP1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PQBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PQBP1 were set to Mental retardation
Additional findings_Paediatric v0.2 PPT1 Zornitza Stark gene: PPT1 was added
gene: PPT1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPT1 were set to Neuronal ceroid lipofuscinosis
Additional findings_Paediatric v0.2 POU4F3 Zornitza Stark gene: POU4F3 was added
gene: POU4F3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: POU4F3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: POU4F3 were set to Deafness, autosomal dominant
Additional findings_Paediatric v0.2 POU3F4 Zornitza Stark gene: POU3F4 was added
gene: POU3F4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: POU3F4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: POU3F4 were set to Deafness, X-linked
Additional findings_Paediatric v0.2 POU1F1 Zornitza Stark gene: POU1F1 was added
gene: POU1F1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: POU1F1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POU1F1 were set to Pituitary hormone deficiency
Additional findings_Paediatric v0.2 PORCN Zornitza Stark gene: PORCN was added
gene: PORCN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PORCN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PORCN were set to Focal dermal hypoplasia
Additional findings_Paediatric v0.2 POR Zornitza Stark gene: POR was added
gene: POR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POR were set to Disordered steroidogenesis with and without Antley-Bixler syndrome
Additional findings_Paediatric v0.2 POMT2 Zornitza Stark gene: POMT2 was added
gene: POMT2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2
Additional findings_Paediatric v0.2 POMT1 Zornitza Stark Added phenotypes Walker-Warburg syndrome for gene: POMT1
Additional findings_Paediatric v0.2 POMT1 Zornitza Stark gene: POMT1 was added
gene: POMT1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1
Additional findings_Paediatric v0.2 POMGNT1 Zornitza Stark Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 for gene: POMGNT1
Additional findings_Paediatric v0.2 POMGNT1 Zornitza Stark gene: POMGNT1 was added
gene: POMGNT1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Additional findings_Paediatric v0.2 POLH Zornitza Stark gene: POLH was added
gene: POLH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: POLH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLH were set to Xeroderma pigmentosum
Additional findings_Paediatric v0.2 POLG Zornitza Stark gene: POLG was added
gene: POLG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to POLG-Related Ataxia Neuropathy Spectrum Disorders
Additional findings_Paediatric v0.2 PNPO Zornitza Stark gene: PNPO was added
gene: PNPO was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PNPO was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPO were set to Epileptic encephalopathy, neonatal
Additional findings_Paediatric v0.2 PNKP Zornitza Stark gene: PNKP was added
gene: PNKP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNKP were set to Microcephaly - seizures - developmental delay
Additional findings_Paediatric v0.2 PNKD Zornitza Stark gene: PNKD was added
gene: PNKD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PNKD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PNKD were set to Paroxysmal nonkinesiogenic dyskinesia
Additional findings_Paediatric v0.2 PMP22 Zornitza Stark gene: PMP22 was added
gene: PMP22 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PMP22 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PMP22 were set to Charcot-Marie-Tooth disease
Additional findings_Paediatric v0.2 PMM2 Zornitza Stark gene: PMM2 was added
gene: PMM2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMM2 were set to Congenital disorder of glycosylation, type Ia
Additional findings_Paediatric v0.2 PLP1 Zornitza Stark Added phenotypes Spastic paraplegia 2, X-linked for gene: PLP1
Additional findings_Paediatric v0.2 PLP1 Zornitza Stark gene: PLP1 was added
gene: PLP1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PLP1 were set to Pelizaeus-Merzbacher disease
Additional findings_Paediatric v0.2 PLOD1 Zornitza Stark gene: PLOD1 was added
gene: PLOD1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PLOD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLOD1 were set to Ehlers-Danlos syndrome, kyphoscoliotic type
Additional findings_Paediatric v0.2 PLG Zornitza Stark gene: PLG was added
gene: PLG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PLG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLG were set to Plasminogen deficiency
Additional findings_Paediatric v0.2 PLEC Zornitza Stark Added phenotypes Muscular dystrophy for gene: PLEC
Additional findings_Paediatric v0.2 PLEC Zornitza Stark gene: PLEC was added
gene: PLEC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLEC were set to Epidermolysis bullosa simplex
Additional findings_Paediatric v0.2 PLCE1 Zornitza Stark gene: PLCE1 was added
gene: PLCE1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PLCE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLCE1 were set to Nephrotic syndrome
Additional findings_Paediatric v0.2 PLA2G6 Zornitza Stark gene: PLA2G6 was added
gene: PLA2G6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLA2G6 were set to Infantile neuroaxonal dystrophy 1
Additional findings_Paediatric v0.2 PKLR Zornitza Stark gene: PKLR was added
gene: PKLR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PKLR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PKLR were set to Pyruvate kinase deficiency
Additional findings_Paediatric v0.2 PKHD1 Zornitza Stark gene: PKHD1 was added
gene: PKHD1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PKHD1 were set to Polycystic kidney and hepatic disease
Additional findings_Paediatric v0.2 PKD2 Zornitza Stark gene: PKD2 was added
gene: PKD2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PKD2 were set to Polycystic kidney disease
Additional findings_Paediatric v0.2 PKD1 Zornitza Stark gene: PKD1 was added
gene: PKD1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PKD1 were set to Polycystic kidney disease
Additional findings_Paediatric v0.2 PINK1 Zornitza Stark gene: PINK1 was added
gene: PINK1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PINK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PINK1 were set to Parkinson disease 6, early onset
Additional findings_Paediatric v0.2 PIEZO2 Zornitza Stark gene: PIEZO2 was added
gene: PIEZO2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PIEZO2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PIEZO2 were set to Arthrogryposis, distal, type 5
Additional findings_Paediatric v0.2 PHYH Zornitza Stark gene: PHYH was added
gene: PHYH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHYH were set to Refsum disease
Additional findings_Paediatric v0.2 PHKG2 Zornitza Stark gene: PHKG2 was added
gene: PHKG2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PHKG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHKG2 were set to Phosphorylase kinase deficiency
Additional findings_Paediatric v0.2 PHKB Zornitza Stark gene: PHKB was added
gene: PHKB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PHKB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHKB were set to Phosphorylase kinase deficiency
Additional findings_Paediatric v0.2 PHKA2 Zornitza Stark gene: PHKA2 was added
gene: PHKA2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PHKA2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PHKA2 were set to Phosphorylase kinase deficiency
Additional findings_Paediatric v0.2 PHF6 Zornitza Stark gene: PHF6 was added
gene: PHF6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PHF6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PHF6 were set to Borjeson-Forssman-Lehmann syndrome
Additional findings_Paediatric v0.2 PFKM Zornitza Stark gene: PFKM was added
gene: PFKM was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PFKM were set to Glycogen storage disease 7
Additional findings_Paediatric v0.2 PEX7 Zornitza Stark Added phenotypes Rhizomelic chondrodysplasia punctata for gene: PEX7
Additional findings_Paediatric v0.2 PEX7 Zornitza Stark gene: PEX7 was added
gene: PEX7 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX7 were set to Refsum disease
Additional findings_Paediatric v0.2 PEX6 Zornitza Stark gene: PEX6 was added
gene: PEX6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX6 were set to Zellweger syndrome
Additional findings_Paediatric v0.2 PEX5 Zornitza Stark gene: PEX5 was added
gene: PEX5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX5 were set to Zellweger syndrome
Additional findings_Paediatric v0.2 PEX3 Zornitza Stark gene: PEX3 was added
gene: PEX3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PEX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX3 were set to Zellweger syndrome
Additional findings_Paediatric v0.2 PEX26 Zornitza Stark gene: PEX26 was added
gene: PEX26 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX26 were set to Zellweger syndrome
Additional findings_Paediatric v0.2 PEX2 Zornitza Stark gene: PEX2 was added
gene: PEX2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX2 were set to Zellweger syndrome
Additional findings_Paediatric v0.2 PEX13 Zornitza Stark gene: PEX13 was added
gene: PEX13 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX13 were set to Zellweger syndrome
Additional findings_Paediatric v0.2 PEX12 Zornitza Stark gene: PEX12 was added
gene: PEX12 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX12 were set to Zellweger syndrome
Additional findings_Paediatric v0.2 PEX10 Zornitza Stark gene: PEX10 was added
gene: PEX10 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX10 were set to Zellweger syndrome
Additional findings_Paediatric v0.2 PEX1 Zornitza Stark gene: PEX1 was added
gene: PEX1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX1 were set to Zellweger syndrome
Additional findings_Paediatric v0.2 PDHX Zornitza Stark gene: PDHX was added
gene: PDHX was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PDHX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDHX were set to Pyruvate dehydrogenase complex deficiency
Additional findings_Paediatric v0.2 PDHA1 Zornitza Stark gene: PDHA1 was added
gene: PDHA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PDHA1 were set to Pyruvate dehydrogenase deficiency
Additional findings_Paediatric v0.2 PDE4D Zornitza Stark gene: PDE4D was added
gene: PDE4D was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PDE4D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PDE4D were set to Acrodysostosis 2, with or without hormone resistance
Additional findings_Paediatric v0.2 PCNT Zornitza Stark gene: PCNT was added
gene: PCNT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCNT were set to Microcephalic osteodysplastic primordial dwarfism type 2
Additional findings_Paediatric v0.2 PCDH15 Zornitza Stark gene: PCDH15 was added
gene: PCDH15 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PCDH15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCDH15 were set to Usher syndrome
Additional findings_Paediatric v0.2 PCCB Zornitza Stark gene: PCCB was added
gene: PCCB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCCB were set to Propionicacidemia
Additional findings_Paediatric v0.2 PCCA Zornitza Stark gene: PCCA was added
gene: PCCA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCCA were set to Propionicacidemia
Additional findings_Paediatric v0.2 PC Zornitza Stark gene: PC was added
gene: PC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PC were set to Pyruvate carboxylase deficiency
Additional findings_Paediatric v0.2 PAX8 Zornitza Stark gene: PAX8 was added
gene: PAX8 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PAX8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PAX8 were set to Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia
Additional findings_Paediatric v0.2 PAX6 Zornitza Stark gene: PAX6 was added
gene: PAX6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PAX6 were set to Aniridia
Additional findings_Paediatric v0.2 PAX3 Zornitza Stark gene: PAX3 was added
gene: PAX3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PAX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PAX3 were set to Waardenburg syndrome
Additional findings_Paediatric v0.2 PANK2 Zornitza Stark gene: PANK2 was added
gene: PANK2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PANK2 were set to Neurodegeneration with brain iron accumulation 1
Additional findings_Paediatric v0.2 PAK3 Zornitza Stark gene: PAK3 was added
gene: PAK3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PAK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PAK3 were set to Mental retardation syndrome, X-linked
Additional findings_Paediatric v0.2 PAH Zornitza Stark gene: PAH was added
gene: PAH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PAH were set to Phenylketonuria
Additional findings_Paediatric v0.2 OTOGL Zornitza Stark gene: OTOGL was added
gene: OTOGL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: OTOGL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OTOGL were set to Deafness, autosomal recessive
Additional findings_Paediatric v0.2 OTOF Zornitza Stark gene: OTOF was added
gene: OTOF was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: OTOF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OTOF were set to Deafness, autosomal recessive
Additional findings_Paediatric v0.2 OTOA Zornitza Stark gene: OTOA was added
gene: OTOA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: OTOA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OTOA were set to Deafness, autosomal recessive
Additional findings_Paediatric v0.2 OTC Zornitza Stark gene: OTC was added
gene: OTC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OTC were set to Ornithine transcarbamylase deficiency
Additional findings_Paediatric v0.2 OSTM1 Zornitza Stark gene: OSTM1 was added
gene: OSTM1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: OSTM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OSTM1 were set to Osteopetrosis
Additional findings_Paediatric v0.2 OSMR Zornitza Stark gene: OSMR was added
gene: OSMR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: OSMR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: OSMR were set to Amyloidosis, primary cutaneous
Additional findings_Paediatric v0.2 ORC1 Zornitza Stark gene: ORC1 was added
gene: ORC1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ORC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC1 were set to Meier-Gorlin syndrome
Additional findings_Paediatric v0.2 OPA3 Zornitza Stark gene: OPA3 was added
gene: OPA3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria, type III
Additional findings_Paediatric v0.2 OPA1 Zornitza Stark gene: OPA1 was added
gene: OPA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: OPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: OPA1 were set to Optic atrophy 1
Additional findings_Paediatric v0.2 OFD1 Zornitza Stark gene: OFD1 was added
gene: OFD1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OFD1 were set to Oral-facial-digital syndrome
Additional findings_Paediatric v0.2 OCRL Zornitza Stark gene: OCRL was added
gene: OCRL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OCRL were set to Lowe oculocerebrorenal syndrome
Additional findings_Paediatric v0.2 OCA2 Zornitza Stark gene: OCA2 was added
gene: OCA2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: OCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OCA2 were set to Albinism, oculocutaneous
Additional findings_Paediatric v0.2 OBSL1 Zornitza Stark gene: OBSL1 was added
gene: OBSL1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: OBSL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OBSL1 were set to 3-M syndrome
Additional findings_Paediatric v0.2 NTRK1 Zornitza Stark gene: NTRK1 was added
gene: NTRK1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NTRK1 were set to Congenital insensitivity to pain with anhidrosis
Additional findings_Paediatric v0.2 NSDHL Zornitza Stark gene: NSDHL was added
gene: NSDHL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NSDHL were set to CHILD syndrome
Additional findings_Paediatric v0.2 NSD1 Zornitza Stark gene: NSD1 was added
gene: NSD1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NSD1 were set to Sotos syndrome
Additional findings_Paediatric v0.2 NR0B1 Zornitza Stark gene: NR0B1 was added
gene: NR0B1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: NR0B1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NR0B1 were set to Congenital adrenal hypoplasia
Additional findings_Paediatric v0.2 NPHS1 Zornitza Stark gene: NPHS1 was added
gene: NPHS1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: NPHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHS1 were set to Congenital nephrotic syndrome, Finnish type
Additional findings_Paediatric v0.2 NPHP4 Zornitza Stark gene: NPHP4 was added
gene: NPHP4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP4 were set to Nephronophthisis
Additional findings_Paediatric v0.2 NPHP3 Zornitza Stark gene: NPHP3 was added
gene: NPHP3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP3 were set to Nephronophthisis
Additional findings_Paediatric v0.2 NPHP1 Zornitza Stark gene: NPHP1 was added
gene: NPHP1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP1 were set to Nephronophthisis
Additional findings_Paediatric v0.2 NPC2 Zornitza Stark gene: NPC2 was added
gene: NPC2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC2 were set to Niemann-Pick disease type C2
Additional findings_Paediatric v0.2 NPC1 Zornitza Stark gene: NPC1 was added
gene: NPC1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC1 were set to Niemann-Pick disease type C1
Additional findings_Paediatric v0.2 NOTCH3 Zornitza Stark gene: NOTCH3 was added
gene: NOTCH3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NOTCH3 were set to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
Additional findings_Paediatric v0.2 NOTCH2 Zornitza Stark gene: NOTCH2 was added
gene: NOTCH2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NOTCH2 were set to Hajdu-Cheney syndrome
Additional findings_Paediatric v0.2 NOG Zornitza Stark gene: NOG was added
gene: NOG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: NOG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NOG were set to Symphalangism, proximal, 1A
Additional findings_Paediatric v0.2 NKX2-1 Zornitza Stark gene: NKX2-1 was added
gene: NKX2-1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NKX2-1 were set to Choreoathetosis, hypothyroidism, and neonatal respiratory distress
Additional findings_Paediatric v0.2 NIPBL Zornitza Stark gene: NIPBL was added
gene: NIPBL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: NIPBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NIPBL were set to Cornelia de Lange syndrome
Additional findings_Paediatric v0.2 NIPAL4 Zornitza Stark gene: NIPAL4 was added
gene: NIPAL4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NIPAL4 were set to Ichthyosis, autosomal recessive
Additional findings_Paediatric v0.2 NHLRC1 Zornitza Stark gene: NHLRC1 was added
gene: NHLRC1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: NHLRC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NHLRC1 were set to Myoclonic epilepsy of Lafora
Additional findings_Paediatric v0.2 NHEJ1 Zornitza Stark gene: NHEJ1 was added
gene: NHEJ1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: NHEJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NHEJ1 were set to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
Additional findings_Paediatric v0.2 NGLY1 Zornitza Stark gene: NGLY1 was added
gene: NGLY1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: NGLY1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NGLY1 were set to Developmental delay, multifocal epilepsy & abnormal liver function
Additional findings_Paediatric v0.2 NF2 Zornitza Stark gene: NF2 was added
gene: NF2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: NF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NF2 were set to Neurofibromatosis 2
Additional findings_Paediatric v0.2 NF1 Zornitza Stark gene: NF1 was added
gene: NF1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NF1 were set to Neurofibromatosis, type 1
Additional findings_Paediatric v0.2 NEU1 Zornitza Stark gene: NEU1 was added
gene: NEU1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEU1 were set to Sialidosis
Additional findings_Paediatric v0.2 NEFL Zornitza Stark gene: NEFL was added
gene: NEFL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: NEFL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NEFL were set to Charcot-Marie-Tooth disease
Additional findings_Paediatric v0.2 NEB Zornitza Stark gene: NEB was added
gene: NEB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: NEB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEB were set to Nemaline myopathy
Additional findings_Paediatric v0.2 NDP Zornitza Stark gene: NDP was added
gene: NDP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: NDP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NDP were set to Norrie disease
Additional findings_Paediatric v0.2 NCF2 Zornitza Stark gene: NCF2 was added
gene: NCF2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: NCF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NCF2 were set to Chronic granulomatous disease
Additional findings_Paediatric v0.2 NCF1 Zornitza Stark gene: NCF1 was added
gene: NCF1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: NCF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NCF1 were set to Chronic granulomatous disease
Additional findings_Paediatric v0.2 NBN Zornitza Stark gene: NBN was added
gene: NBN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NBN were set to Nijmegen breakage syndrome
Additional findings_Paediatric v0.2 NAGS Zornitza Stark gene: NAGS was added
gene: NAGS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGS were set to N-acetylglutamate synthetase deficiency
Additional findings_Paediatric v0.2 NAGLU Zornitza Stark gene: NAGLU was added
gene: NAGLU was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGLU were set to Sanfilippo syndrome type B
Additional findings_Paediatric v0.2 NAGA Zornitza Stark gene: NAGA was added
gene: NAGA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGA were set to N-acetylgalactosaminidase alpha deficiency
Additional findings_Paediatric v0.2 MYO7A Zornitza Stark gene: MYO7A was added
gene: MYO7A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MYO7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO7A were set to Usher syndrome
Additional findings_Paediatric v0.2 MYO6 Zornitza Stark gene: MYO6 was added
gene: MYO6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MYO6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO6 were set to Deafness
Additional findings_Paediatric v0.2 MYO3A Zornitza Stark gene: MYO3A was added
gene: MYO3A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MYO3A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO3A were set to Sensorineural hearing loss
Additional findings_Paediatric v0.2 MYO15A Zornitza Stark gene: MYO15A was added
gene: MYO15A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MYO15A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO15A were set to Sensorineural hearing loss
Additional findings_Paediatric v0.2 MYH9 Zornitza Stark gene: MYH9 was added
gene: MYH9 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MYH9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH9 were set to Macrothrombocytopenia and progressive sensorineural deafness
Additional findings_Paediatric v0.2 MYH7 Zornitza Stark Added phenotypes Myopathy, myosin storage for gene: MYH7
Additional findings_Paediatric v0.2 MYH7 Zornitza Stark gene: MYH7 was added
gene: MYH7 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MYH7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH7 were set to Laing distal myopathy
Additional findings_Paediatric v0.2 MYH3 Zornitza Stark gene: MYH3 was added
gene: MYH3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MYH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH3 were set to Arthrogryposis, distal
Additional findings_Paediatric v0.2 MYH2 Zornitza Stark gene: MYH2 was added
gene: MYH2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MYH2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYH2 were set to Proximal myopathy and ophthalmoplegia
Additional findings_Paediatric v0.2 MYH14 Zornitza Stark gene: MYH14 was added
gene: MYH14 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MYH14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH14 were set to Deafness, autosomal dominant
Additional findings_Paediatric v0.2 MYCN Zornitza Stark gene: MYCN was added
gene: MYCN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MYCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYCN were set to Feingold syndrome
Additional findings_Paediatric v0.2 MVK Zornitza Stark gene: MVK was added
gene: MVK was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MVK were set to Hyperimmunoglobulin D and periodic fever syndrome
Additional findings_Paediatric v0.2 MUTYH Zornitza Stark gene: MUTYH was added
gene: MUTYH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MUTYH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUTYH were set to MUTYH-associated polyposis
Additional findings_Paediatric v0.2 MUT Zornitza Stark gene: MUT was added
gene: MUT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUT were set to Methylmalonic aciduria, mut(0) type
Additional findings_Paediatric v0.2 MUSK Zornitza Stark gene: MUSK was added
gene: MUSK was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MUSK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUSK were set to Congenital myasthenic syndrome
Additional findings_Paediatric v0.2 MTTP Zornitza Stark gene: MTTP was added
gene: MTTP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTTP were set to Abetalipoproteinaemia
Additional findings_Paediatric v0.2 MTRR Zornitza Stark gene: MTRR was added
gene: MTRR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTRR were set to Methylmalonic aciduria and homocystinuria
Additional findings_Paediatric v0.2 MTR Zornitza Stark gene: MTR was added
gene: MTR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTR were set to Methylmalonic aciduria and homocystinuria
Additional findings_Paediatric v0.2 MTM1 Zornitza Stark gene: MTM1 was added
gene: MTM1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MTM1 were set to Myotubular myopathy, X-linked
Additional findings_Paediatric v0.2 MSX2 Zornitza Stark gene: MSX2 was added
gene: MSX2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MSX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MSX2 were set to Parietal foramina 1
Additional findings_Paediatric v0.2 MPZ Zornitza Stark gene: MPZ was added
gene: MPZ was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MPZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MPZ were set to Charcot-Marie-Tooth disease
Additional findings_Paediatric v0.2 MPV17 Zornitza Stark gene: MPV17 was added
gene: MPV17 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome, hepatic
Additional findings_Paediatric v0.2 MPL Zornitza Stark gene: MPL was added
gene: MPL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPL were set to Amegakaryocytic thrombocytopaenia, congenital
Additional findings_Paediatric v0.2 MPI Zornitza Stark gene: MPI was added
gene: MPI was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPI were set to Congenital disorder of glycosylation 1b
Additional findings_Paediatric v0.2 MOCS2 Zornitza Stark gene: MOCS2 was added
gene: MOCS2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MOCS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MOCS2 were set to Molybdenum cofactor deficiency
Additional findings_Paediatric v0.2 MOCS1 Zornitza Stark gene: MOCS1 was added
gene: MOCS1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MOCS1 were set to Molybdenum cofactor deficiency
Additional findings_Paediatric v0.2 MMADHC Zornitza Stark gene: MMADHC was added
gene: MMADHC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMADHC were set to Methylmalonic aciduria and homocystinuria, cblD type
Additional findings_Paediatric v0.2 MMACHC Zornitza Stark gene: MMACHC was added
gene: MMACHC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type
Additional findings_Paediatric v0.2 MMAB Zornitza Stark gene: MMAB was added
gene: MMAB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMAB were set to Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type
Additional findings_Paediatric v0.2 MMAA Zornitza Stark gene: MMAA was added
gene: MMAA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMAA were set to Methylmalonic aciduria, vitamin B12-responsive
Additional findings_Paediatric v0.2 MLYCD Zornitza Stark gene: MLYCD was added
gene: MLYCD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLYCD were set to Malonyl-CoA decarboxylase deficiency
Additional findings_Paediatric v0.2 MLC1 Zornitza Stark gene: MLC1 was added
gene: MLC1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLC1 were set to Megalencephalic leukoencephalopathy
Additional findings_Paediatric v0.2 MKS1 Zornitza Stark gene: MKS1 was added
gene: MKS1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKS1 were set to Meckel syndrome
Additional findings_Paediatric v0.2 MKKS Zornitza Stark gene: MKKS was added
gene: MKKS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKKS were set to Bardet-Biedl syndrome
Additional findings_Paediatric v0.2 MITF Zornitza Stark gene: MITF was added
gene: MITF was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MITF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MITF were set to Waardenburg syndrome
Additional findings_Paediatric v0.2 MGP Zornitza Stark gene: MGP was added
gene: MGP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MGP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MGP were set to Keutel syndrome
Additional findings_Paediatric v0.2 MFSD8 Zornitza Stark gene: MFSD8 was added
gene: MFSD8 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFSD8 were set to Ceroid lipofuscinosis, neuronal
Additional findings_Paediatric v0.2 MFN2 Zornitza Stark gene: MFN2 was added
gene: MFN2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MFN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MFN2 were set to Charcot-Marie-Tooth disease
Additional findings_Paediatric v0.2 MEN1 Zornitza Stark gene: MEN1 was added
gene: MEN1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MEN1 were set to Multiple endocrine neoplasia I
Additional findings_Paediatric v0.2 MEGF10 Zornitza Stark gene: MEGF10 was added
gene: MEGF10 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MEGF10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MEGF10 were set to Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
Additional findings_Paediatric v0.2 MEFV Zornitza Stark gene: MEFV was added
gene: MEFV was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MEFV was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MEFV were set to Mediterranean fever, familial
Additional findings_Paediatric v0.2 MED12 Zornitza Stark gene: MED12 was added
gene: MED12 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MED12 were set to Intellectual disability
Additional findings_Paediatric v0.2 MECP2 Zornitza Stark gene: MECP2 was added
gene: MECP2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MECP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MECP2 were set to Rett syndrome
Additional findings_Paediatric v0.2 MCPH1 Zornitza Stark gene: MCPH1 was added
gene: MCPH1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MCPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCPH1 were set to Microcephaly 1, primary, autosomal recessive
Additional findings_Paediatric v0.2 MCOLN1 Zornitza Stark gene: MCOLN1 was added
gene: MCOLN1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCOLN1 were set to Mucolipidosis IV
Additional findings_Paediatric v0.2 MCFD2 Zornitza Stark gene: MCFD2 was added
gene: MCFD2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MCFD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCFD2 were set to Factor V and Factor VIII deficiency, combined
Additional findings_Paediatric v0.2 MBTPS2 Zornitza Stark gene: MBTPS2 was added
gene: MBTPS2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MBTPS2 were set to Ichthyosis follicularis, alopecia & photophobia
Additional findings_Paediatric v0.2 MARVELD2 Zornitza Stark gene: MARVELD2 was added
gene: MARVELD2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MARVELD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MARVELD2 were set to Deafness, autosomal recessive
Additional findings_Paediatric v0.2 MAP2K2 Zornitza Stark gene: MAP2K2 was added
gene: MAP2K2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MAP2K2 were set to Cardiofaciocutaneous syndrome
Additional findings_Paediatric v0.2 MAP2K1 Zornitza Stark gene: MAP2K1 was added
gene: MAP2K1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MAP2K1 were set to Cardiofaciocutaneous syndrome
Additional findings_Paediatric v0.2 MAN2B1 Zornitza Stark gene: MAN2B1 was added
gene: MAN2B1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAN2B1 were set to Mannosidosis, alpha
Additional findings_Paediatric v0.2 MAGI2 Zornitza Stark gene: MAGI2 was added
gene: MAGI2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MAGI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MAGI2 were set to Infantile spasms
Additional findings_Paediatric v0.2 MAFB Zornitza Stark gene: MAFB was added
gene: MAFB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MAFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MAFB were set to Multicentric carpotarsal osteolysis syndrome
Additional findings_Paediatric v0.2 LYST Zornitza Stark gene: LYST was added
gene: LYST was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LYST were set to Chediak-Higashi syndrome
Additional findings_Paediatric v0.2 LTBP4 Zornitza Stark gene: LTBP4 was added
gene: LTBP4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: LTBP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LTBP4 were set to Cutis laxa, autosomal recessive, type IC
Additional findings_Paediatric v0.2 LRTOMT Zornitza Stark gene: LRTOMT was added
gene: LRTOMT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: LRTOMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRTOMT were set to Deafness, autosomal recessive
Additional findings_Paediatric v0.2 LRSAM1 Zornitza Stark gene: LRSAM1 was added
gene: LRSAM1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: LRSAM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LRSAM1 were set to Charcot-Marie-Tooth disease
Additional findings_Paediatric v0.2 LRRC6 Zornitza Stark gene: LRRC6 was added
gene: LRRC6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: LRRC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRRC6 were set to Primary ciliary dyskinesia
Additional findings_Paediatric v0.2 LRPPRC Zornitza Stark gene: LRPPRC was added
gene: LRPPRC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRPPRC were set to Leigh syndrome
Additional findings_Paediatric v0.2 LRP5 Zornitza Stark Mode of inheritance for gene LRP5 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Osteopetrosis, autosomal dominant for gene: LRP5
Additional findings_Paediatric v0.2 LRP5 Zornitza Stark gene: LRP5 was added
gene: LRP5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: LRP5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRP5 were set to Osteoporosis-pseudoglioma syndrome
Additional findings_Paediatric v0.2 LRP4 Zornitza Stark gene: LRP4 was added
gene: LRP4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRP4 were set to Cenani-Lenz syndactyly syndrome
Additional findings_Paediatric v0.2 LRP2 Zornitza Stark gene: LRP2 was added
gene: LRP2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRP2 were set to Donnai-Barrow syndrome
Additional findings_Paediatric v0.2 LOXHD1 Zornitza Stark gene: LOXHD1 was added
gene: LOXHD1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: LOXHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LOXHD1 were set to Deafness, autosomal recessive
Additional findings_Paediatric v0.2 LMX1B Zornitza Stark gene: LMX1B was added
gene: LMX1B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LMX1B were set to Nail patella syndrome
Additional findings_Paediatric v0.2 LMOD3 Zornitza Stark gene: LMOD3 was added
gene: LMOD3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: LMOD3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMOD3 were set to Nemaline myopathy
Additional findings_Paediatric v0.2 LMNA Zornitza Stark Mode of inheritance for gene LMNA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Charcot-Marie-Tooth disease for gene: LMNA
Additional findings_Paediatric v0.2 LMNA Zornitza Stark gene: LMNA was added
gene: LMNA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LMNA were set to Emery-Dreifuss muscular dystrophy 2
Additional findings_Paediatric v0.2 LMBRD1 Zornitza Stark gene: LMBRD1 was added
gene: LMBRD1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMBRD1 were set to Methylmalonic aciduria and homocystinuria
Additional findings_Paediatric v0.2 LITAF Zornitza Stark gene: LITAF was added
gene: LITAF was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: LITAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LITAF were set to Charcot-Marie-Tooth disease
Additional findings_Paediatric v0.2 LIPA Zornitza Stark gene: LIPA was added
gene: LIPA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPA were set to Wolman syndrome
Additional findings_Paediatric v0.2 LIG4 Zornitza Stark gene: LIG4 was added
gene: LIG4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIG4 were set to Severe combined immunodeficiency with sensitivity to ionizing radiation
Additional findings_Paediatric v0.2 LIFR Zornitza Stark gene: LIFR was added
gene: LIFR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIFR were set to Stuve-Wiedemann syndrome
Additional findings_Paediatric v0.2 LHX3 Zornitza Stark gene: LHX3 was added
gene: LHX3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LHX3 were set to Pituitary hormone deficiency, combined
Additional findings_Paediatric v0.2 LHFPL5 Zornitza Stark gene: LHFPL5 was added
gene: LHFPL5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: LHFPL5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LHFPL5 were set to Deafness, autosomal recessive
Additional findings_Paediatric v0.2 LEPR Zornitza Stark gene: LEPR was added
gene: LEPR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: LEPR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LEPR were set to Obesity, morbid, due to leptin receptor deficiency
Additional findings_Paediatric v0.2 LDLR Zornitza Stark gene: LDLR was added
gene: LDLR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: LDLR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LDLR were set to Hypercholesterolemia
Additional findings_Paediatric v0.2 LBR Zornitza Stark gene: LBR was added
gene: LBR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: LBR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LBR were set to Pelger-Huet anomaly
Additional findings_Paediatric v0.2 LARGE1 Zornitza Stark gene: LARGE1 was added
gene: LARGE1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARGE1 were set to Walker-Warburg syndrome
Additional findings_Paediatric v0.2 LAMP2 Zornitza Stark gene: LAMP2 was added
gene: LAMP2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: LAMP2 were set to Danon disease
Additional findings_Paediatric v0.2 LAMC2 Zornitza Stark gene: LAMC2 was added
gene: LAMC2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: LAMC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMC2 were set to Epidermolysis bullosa, junctional
Additional findings_Paediatric v0.2 LAMB3 Zornitza Stark gene: LAMB3 was added
gene: LAMB3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: LAMB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMB3 were set to Epidermolysis bullosa, junctional
Additional findings_Paediatric v0.2 LAMB2 Zornitza Stark gene: LAMB2 was added
gene: LAMB2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMB2 were set to Pierson syndrome
Additional findings_Paediatric v0.2 LAMA3 Zornitza Stark gene: LAMA3 was added
gene: LAMA3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: LAMA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMA3 were set to Epidermolysis bullosa, junctional
Additional findings_Paediatric v0.2 LAMA2 Zornitza Stark gene: LAMA2 was added
gene: LAMA2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMA2 were set to Muscular dystrophy, congenital merosin-deficient
Additional findings_Paediatric v0.2 L1CAM Zornitza Stark gene: L1CAM was added
gene: L1CAM was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: L1CAM were set to X-linked hydrocephalus syndrome
Additional findings_Paediatric v0.2 KRT6A Zornitza Stark gene: KRT6A was added
gene: KRT6A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: KRT6A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT6A were set to Pachyonychia congenita
Additional findings_Paediatric v0.2 KRT5 Zornitza Stark gene: KRT5 was added
gene: KRT5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: KRT5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT5 were set to Epidermolysis bullosa simplex
Additional findings_Paediatric v0.2 KRT17 Zornitza Stark gene: KRT17 was added
gene: KRT17 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: KRT17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT17 were set to Pachyonychia congenita
Additional findings_Paediatric v0.2 KRT16 Zornitza Stark gene: KRT16 was added
gene: KRT16 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: KRT16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT16 were set to Pachyonychia congenita
Additional findings_Paediatric v0.2 KRT14 Zornitza Stark gene: KRT14 was added
gene: KRT14 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: KRT14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT14 were set to Epidermolysis bullosa simplex
Additional findings_Paediatric v0.2 KRAS Zornitza Stark gene: KRAS was added
gene: KRAS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRAS were set to Noonan syndrome
Additional findings_Paediatric v0.2 KMT2D Zornitza Stark gene: KMT2D was added
gene: KMT2D was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KMT2D were set to Kabuki syndrome 1
Additional findings_Paediatric v0.2 KLHL41 Zornitza Stark gene: KLHL41 was added
gene: KLHL41 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: KLHL41 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KLHL41 were set to Nemaline myopathy
Additional findings_Paediatric v0.2 KLHL40 Zornitza Stark gene: KLHL40 was added
gene: KLHL40 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: KLHL40 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KLHL40 were set to Nemaline myopathy
Additional findings_Paediatric v0.2 KIT Zornitza Stark gene: KIT was added
gene: KIT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KIT were set to Piebaldism
Additional findings_Paediatric v0.2 KIF21A Zornitza Stark gene: KIF21A was added
gene: KIF21A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: KIF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KIF21A were set to Fibrosis of extraocular muscles, congenital
Additional findings_Paediatric v0.2 KDM6A Zornitza Stark gene: KDM6A was added
gene: KDM6A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: KDM6A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: KDM6A were set to Kabuki syndrome 2
Additional findings_Paediatric v0.2 KCTD7 Zornitza Stark gene: KCTD7 was added
gene: KCTD7 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCTD7 were set to Epilepsy, progressive myoclonic
Additional findings_Paediatric v0.2 KCNQ4 Zornitza Stark gene: KCNQ4 was added
gene: KCNQ4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: KCNQ4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNQ4 were set to Deafness, autosomal dominant
Additional findings_Paediatric v0.2 KCNQ1 Zornitza Stark gene: KCNQ1 was added
gene: KCNQ1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: KCNQ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNQ1 were set to Jervell and Lange-Nielsen syndrome
Additional findings_Paediatric v0.2 KCNJ2 Zornitza Stark gene: KCNJ2 was added
gene: KCNJ2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNJ2 were set to Andersen cardiodysrhythmic periodic paralysis
Additional findings_Paediatric v0.2 KCNJ11 Zornitza Stark gene: KCNJ11 was added
gene: KCNJ11 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: KCNJ11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ11 were set to Hyperinsulinemic hypoglycemia, familial
Additional findings_Paediatric v0.2 KCNJ1 Zornitza Stark gene: KCNJ1 was added
gene: KCNJ1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: KCNJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ1 were set to Bartter syndrome
Additional findings_Paediatric v0.2 KCNE1 Zornitza Stark gene: KCNE1 was added
gene: KCNE1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: KCNE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNE1 were set to Jervell and Lange-Nielsen syndrome
Additional findings_Paediatric v0.2 KCNA1 Zornitza Stark gene: KCNA1 was added
gene: KCNA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNA1 were set to Episodic ataxia type 1
Additional findings_Paediatric v0.2 KBTBD13 Zornitza Stark gene: KBTBD13 was added
gene: KBTBD13 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: KBTBD13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KBTBD13 were set to Nemaline myopathy
Additional findings_Paediatric v0.2 KAT6B Zornitza Stark gene: KAT6B was added
gene: KAT6B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: KAT6B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KAT6B were set to Genitopatellar syndrome
Additional findings_Paediatric v0.2 KANSL1 Zornitza Stark gene: KANSL1 was added
gene: KANSL1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: KANSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KANSL1 were set to Koolen-De Vries syndrome
Additional findings_Paediatric v0.2 JUP Zornitza Stark gene: JUP was added
gene: JUP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: JUP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: JUP were set to Naxos disease
Additional findings_Paediatric v0.2 JAK3 Zornitza Stark gene: JAK3 was added
gene: JAK3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: JAK3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: JAK3 were set to SCID, autosomal recessive, T-negative/B-positive type
Additional findings_Paediatric v0.2 JAG1 Zornitza Stark gene: JAG1 was added
gene: JAG1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: JAG1 were set to Alagille syndrome
Additional findings_Paediatric v0.2 IVD Zornitza Stark gene: IVD was added
gene: IVD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IVD were set to Isovaleric acidemia
Additional findings_Paediatric v0.2 ITGB4 Zornitza Stark gene: ITGB4 was added
gene: ITGB4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGB4 were set to Epidermolysis bullosa, junctional, with pyloric atresia
Additional findings_Paediatric v0.2 ISPD Zornitza Stark gene: ISPD was added
gene: ISPD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ISPD were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Additional findings_Paediatric v0.2 IRF6 Zornitza Stark gene: IRF6 was added
gene: IRF6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: IRF6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: IRF6 were set to van der Woude syndrome
Additional findings_Paediatric v0.2 IQCB1 Zornitza Stark gene: IQCB1 was added
gene: IQCB1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: IQCB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IQCB1 were set to Senior-Loken syndrome 5
Additional findings_Paediatric v0.2 INVS Zornitza Stark gene: INVS was added
gene: INVS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: INVS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INVS were set to Nephronophthisis 2
Additional findings_Paediatric v0.2 INSR Zornitza Stark gene: INSR was added
gene: INSR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: INSR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INSR were set to Leprechaunism
Additional findings_Paediatric v0.2 ILDR1 Zornitza Stark gene: ILDR1 was added
gene: ILDR1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ILDR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ILDR1 were set to Deafness, autosomal recessive
Additional findings_Paediatric v0.2 IL2RG Zornitza Stark gene: IL2RG was added
gene: IL2RG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: IL2RG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IL2RG were set to Severe combined immunodeficiency, X-linked
Additional findings_Paediatric v0.2 IL10RA Zornitza Stark gene: IL10RA was added
gene: IL10RA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: IL10RA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL10RA were set to Inflammatory bowel disease
Additional findings_Paediatric v0.2 IKBKG Zornitza Stark gene: IKBKG was added
gene: IKBKG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IKBKG were set to Incontinentia pigmenti 1
Additional findings_Paediatric v0.2 ELP1 Zornitza Stark gene: ELP1 was added
gene: ELP1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ELP1 were set to Dysautonomia, familial
Additional findings_Paediatric v0.2 IGSF1 Zornitza Stark gene: IGSF1 was added
gene: IGSF1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: IGSF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IGSF1 were set to Central hypothyroidism and testicular enlargement
Additional findings_Paediatric v0.2 IGHMBP2 Zornitza Stark gene: IGHMBP2 was added
gene: IGHMBP2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGHMBP2 were set to Spinal muscular atrophy with respiratory distress
Additional findings_Paediatric v0.2 IDUA Zornitza Stark gene: IDUA was added
gene: IDUA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IDUA were set to Mucopolysaccharidosis Ih
Additional findings_Paediatric v0.2 IDS Zornitza Stark gene: IDS was added
gene: IDS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IDS were set to Mucopolysaccharidosis II
Additional findings_Paediatric v0.2 HTRA1 Zornitza Stark gene: HTRA1 was added
gene: HTRA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: HTRA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HTRA1 were set to CARASIL syndrome
Additional findings_Paediatric v0.2 HSPG2 Zornitza Stark gene: HSPG2 was added
gene: HSPG2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: HSPG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSPG2 were set to Schwartz-Jampel syndrome
Additional findings_Paediatric v0.2 HSPB8 Zornitza Stark gene: HSPB8 was added
gene: HSPB8 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: HSPB8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HSPB8 were set to Charcot-Marie-Tooth disease, axonal, type 2L
Additional findings_Paediatric v0.2 HSD3B7 Zornitza Stark gene: HSD3B7 was added
gene: HSD3B7 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD3B7 were set to 3 beta-hydroxysteroid dehydrogenase deficiency
Additional findings_Paediatric v0.2 HSD17B4 Zornitza Stark gene: HSD17B4 was added
gene: HSD17B4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD17B4 were set to D-bifunctional protein deficiency
Additional findings_Paediatric v0.2 HSD17B3 Zornitza Stark gene: HSD17B3 was added
gene: HSD17B3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: HSD17B3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD17B3 were set to Pseudohermaphroditism, male, with gynecomastia
Additional findings_Paediatric v0.2 HSD17B10 Zornitza Stark gene: HSD17B10 was added
gene: HSD17B10 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HSD17B10 were set to 17-beta-hydroxysteroid dehydrogenase X deficiency
Additional findings_Paediatric v0.2 HRAS Zornitza Stark gene: HRAS was added
gene: HRAS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HRAS were set to Costello syndrome
Additional findings_Paediatric v0.2 HPS5 Zornitza Stark gene: HPS5 was added
gene: HPS5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: HPS5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS5 were set to Hermansky-Pudlak syndrome 5
Additional findings_Paediatric v0.2 HPS4 Zornitza Stark gene: HPS4 was added
gene: HPS4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: HPS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS4 were set to Hermansky-Pudlak syndrome 4
Additional findings_Paediatric v0.2 HPS3 Zornitza Stark gene: HPS3 was added
gene: HPS3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: HPS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS3 were set to Hermansky-Pudlak syndrome 3
Additional findings_Paediatric v0.2 HPS1 Zornitza Stark gene: HPS1 was added
gene: HPS1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS1 were set to Hermansky-Pudlak syndrome 1
Additional findings_Paediatric v0.2 HPRT1 Zornitza Stark gene: HPRT1 was added
gene: HPRT1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HPRT1 were set to Lesch-Nyhan syndrome 1
Additional findings_Paediatric v0.2 HMGCL Zornitza Stark gene: HMGCL was added
gene: HMGCL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HMGCL were set to 3-hydroxy-3-methylglutaric aciduria
Additional findings_Paediatric v0.2 HLCS Zornitza Stark gene: HLCS was added
gene: HLCS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HLCS were set to Holocarboxylase synthetase deficiency
Additional findings_Paediatric v0.2 HINT1 Zornitza Stark gene: HINT1 was added
gene: HINT1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: HINT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HINT1 were set to Axonal neuropathy with neuromyotonia
Additional findings_Paediatric v0.2 HGSNAT Zornitza Stark gene: HGSNAT was added
gene: HGSNAT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HGSNAT were set to Mucopolysaccharidosis IIIC
Additional findings_Paediatric v0.2 HGD Zornitza Stark gene: HGD was added
gene: HGD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: HGD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HGD were set to Alkaptonuria
Additional findings_Paediatric v0.2 HEXB Zornitza Stark gene: HEXB was added
gene: HEXB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXB were set to Sandhoff disease, infantile, juvenile, and adult forms
Additional findings_Paediatric v0.2 HEXA Zornitza Stark gene: HEXA was added
gene: HEXA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXA were set to Tay-Sachs disease
Additional findings_Paediatric v0.2 HDAC8 Zornitza Stark gene: HDAC8 was added
gene: HDAC8 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: HDAC8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HDAC8 were set to Cornelia de Lange syndrome-like features, ocular hypertelorism & large fontanelle
Additional findings_Paediatric v0.2 HBB Zornitza Stark gene: HBB was added
gene: HBB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: HBB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HBB were set to Beta-thalassemia
Additional findings_Paediatric v0.2 HBA2 Zornitza Stark gene: HBA2 was added
gene: HBA2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: HBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HBA2 were set to Thalassemia, alpha
Additional findings_Paediatric v0.2 HBA1 Zornitza Stark gene: HBA1 was added
gene: HBA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: HBA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HBA1 were set to Thalassaemia alpha
Additional findings_Paediatric v0.2 HADHB Zornitza Stark gene: HADHB was added
gene: HADHB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHB were set to Mitochondrial trifunctional protein deficiency
Additional findings_Paediatric v0.2 HADHA Zornitza Stark gene: HADHA was added
gene: HADHA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHA were set to Mitochondrial trifunctional protein deficiency
Additional findings_Paediatric v0.2 HADH Zornitza Stark gene: HADH was added
gene: HADH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADH were set to Hyperinsulinemic hypoglycemia, familial, 4
Additional findings_Paediatric v0.2 H19 Zornitza Stark gene: H19 was added
gene: H19 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: H19 was set to Unknown
Phenotypes for gene: H19 were set to Beckwith-Wiedemann Syndrome
Additional findings_Paediatric v0.2 GYS2 Zornitza Stark gene: GYS2 was added
gene: GYS2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GYS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GYS2 were set to Glycogen storage disease 0
Additional findings_Paediatric v0.2 GUSB Zornitza Stark gene: GUSB was added
gene: GUSB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GUSB were set to Mucopolysaccharidosis VII
Additional findings_Paediatric v0.2 GSS Zornitza Stark gene: GSS was added
gene: GSS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GSS were set to Glutathione synthetase deficiency
Additional findings_Paediatric v0.2 GRHPR Zornitza Stark gene: GRHPR was added
gene: GRHPR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GRHPR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRHPR were set to Hyperoxaluria, primary, type II
Additional findings_Paediatric v0.2 GPSM2 Zornitza Stark gene: GPSM2 was added
gene: GPSM2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GPSM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPSM2 were set to Chudley-McCullough syndrome
Additional findings_Paediatric v0.2 PDZD7 Zornitza Stark Added phenotypes Usher syndrome for gene: PDZD7
Additional findings_Paediatric v0.2 ADGRG1 Zornitza Stark Added phenotypes Polymicrogyria, bilateral frontoparietal for gene: ADGRG1
Additional findings_Paediatric v0.2 GPR143 Zornitza Stark Added phenotypes Ocular albinism, type I for gene: GPR143
Additional findings_Paediatric v0.2 GPC3 Zornitza Stark Added phenotypes Simpson-Golabi-Behmel syndrome for gene: GPC3
Additional findings_Paediatric v0.2 GNS Zornitza Stark Added phenotypes Mucopolysaccharidosis IIId for gene: GNS
Additional findings_Paediatric v0.2 GNPTG Zornitza Stark Added phenotypes Mucolipidosis III gamma for gene: GNPTG
Additional findings_Paediatric v0.2 GNPTAB Zornitza Stark Added phenotypes Mucolipidosis II for gene: GNPTAB
Additional findings_Paediatric v0.2 GNE Zornitza Stark Added phenotypes Inclusion body myopathy for gene: GNE
Additional findings_Paediatric v0.2 GNAS Zornitza Stark Added phenotypes Pseudopseudohypoparathyroidism for gene: GNAS
Additional findings_Paediatric v0.2 GNAS Zornitza Stark Added phenotypes Pseudohypoparathyroidism for gene: GNAS
Additional findings_Paediatric v0.2 GLUD1 Zornitza Stark Added phenotypes Hyperinsulinism for gene: GLUD1
Additional findings_Paediatric v0.2 GLRA1 Zornitza Stark Added phenotypes Hyperekplexia, hereditary 1, autosomal dominant or recessive for gene: GLRA1
Additional findings_Paediatric v0.2 GLI3 Zornitza Stark Added phenotypes Greig cephalopolysyndactyly syndrome for gene: GLI3
Additional findings_Paediatric v0.2 GLDC Zornitza Stark Added phenotypes Glycine encephalopathy for gene: GLDC
Additional findings_Paediatric v0.2 GLB1 Zornitza Stark Added phenotypes Gangliosidosis GM1 for gene: GLB1
Additional findings_Paediatric v0.2 GLA Zornitza Stark Added phenotypes Fabry disease for gene: GLA
Additional findings_Paediatric v0.2 GJC2 Zornitza Stark Added phenotypes Pelizaeus-Merzbacher-like disease for gene: GJC2
Additional findings_Paediatric v0.2 GJB2 Zornitza Stark Mode of inheritance for gene GJB2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Deafness and palmoplantar keratoderma for gene: GJB2
Additional findings_Paediatric v0.2 GJB2 Zornitza Stark Mode of inheritance for gene GJB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Deafness for gene: GJB2
Additional findings_Paediatric v0.2 GJB1 Zornitza Stark Added phenotypes Charcot-Marie-Tooth neuropathy for gene: GJB1
Additional findings_Paediatric v0.2 GJA1 Zornitza Stark Added phenotypes Oculodentodigital dysplasia for gene: GJA1
Additional findings_Paediatric v0.2 GIPC3 Zornitza Stark Added phenotypes Hearing loss for gene: GIPC3
Additional findings_Paediatric v0.2 GFPT1 Zornitza Stark Added phenotypes Congenital myasthenic syndrome, limb-girdle for gene: GFPT1
Additional findings_Paediatric v0.2 GFM1 Zornitza Stark Added phenotypes Combined oxidative phosphorylation deficiency 1 for gene: GFM1
Additional findings_Paediatric v0.2 GFAP Zornitza Stark Added phenotypes Alexander disease for gene: GFAP
Additional findings_Paediatric v0.2 GDAP1 Zornitza Stark Added phenotypes Charcot-Marie-Tooth disease for gene: GDAP1
Additional findings_Paediatric v0.2 GCK Zornitza Stark Added phenotypes Hyperinsulinemic hypoglycemia, familial for gene: GCK
Additional findings_Paediatric v0.2 GCDH Zornitza Stark Added phenotypes Glutaricaciduria, type I for gene: GCDH
Additional findings_Paediatric v0.2 GBE1 Zornitza Stark Added phenotypes Glycogen storage disease IV for gene: GBE1
Additional findings_Paediatric v0.2 GBA Zornitza Stark Added phenotypes Gaucher disease 1 for gene: GBA
Additional findings_Paediatric v0.2 GATA4 Zornitza Stark Added phenotypes Congenital heart defects for gene: GATA4
Additional findings_Paediatric v0.2 GATA1 Zornitza Stark Added phenotypes Dyserythropoietic anemia with thrombocytopenia for gene: GATA1
Additional findings_Paediatric v0.2 GAN Zornitza Stark Added phenotypes Giant axonal neuropathy for gene: GAN
Additional findings_Paediatric v0.2 GALT Zornitza Stark Added phenotypes Galactosaemia for gene: GALT
Additional findings_Paediatric v0.2 GALNS Zornitza Stark Added phenotypes Mucopolysaccharidosis IVA for gene: GALNS
Additional findings_Paediatric v0.2 GALK1 Zornitza Stark Added phenotypes Galactokinase deficiency with cataracts for gene: GALK1
Additional findings_Paediatric v0.2 GALC Zornitza Stark Added phenotypes Krabbe disease for gene: GALC
Additional findings_Paediatric v0.2 GAA Zornitza Stark Added phenotypes Glycogen storage disease II for gene: GAA
Additional findings_Paediatric v0.2 G6PD Zornitza Stark Added phenotypes Glucose-6-phosphate dehydrogenase deficiency for gene: G6PD
Additional findings_Paediatric v0.2 G6PC3 Zornitza Stark Added phenotypes Neutropaenia, congenital for gene: G6PC3
Additional findings_Paediatric v0.2 G6PC Zornitza Stark Added phenotypes Glycogen storage disease Ia for gene: G6PC
Additional findings_Paediatric v0.2 FXN Zornitza Stark Added phenotypes Friedreich ataxia for gene: FXN
Additional findings_Paediatric v0.2 FUCA1 Zornitza Stark Added phenotypes Fucosidosis for gene: FUCA1
Additional findings_Paediatric v0.2 FTL Zornitza Stark Added phenotypes Neuroferritinopathy for gene: FTL
Additional findings_Paediatric v0.2 FRAS1 Zornitza Stark Added phenotypes Fraser syndrome for gene: FRAS1
Additional findings_Paediatric v0.2 FOXP3 Zornitza Stark Added phenotypes IPEX syndrome for gene: FOXP3
Additional findings_Paediatric v0.2 FOXF1 Zornitza Stark Added phenotypes Alveolar capillary dysplasia with misalignment of pulmonary veins for gene: FOXF1
Additional findings_Paediatric v0.2 FOXC2 Zornitza Stark Added phenotypes Lymphoedema, primary for gene: FOXC2
Additional findings_Paediatric v0.2 FOXC1 Zornitza Stark Added phenotypes Axenfeld-Rieger syndrome for gene: FOXC1
Additional findings_Paediatric v0.2 FLNA Zornitza Stark Added phenotypes Otopalatodigital spectrum disorder for gene: FLNA
Additional findings_Paediatric v0.2 FLCN Zornitza Stark Added phenotypes Birt-Hogg-Dube syndrome for gene: FLCN
Additional findings_Paediatric v0.2 FKTN Zornitza Stark Added phenotypes Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies for gene: FKTN
Additional findings_Paediatric v0.2 FKTN Zornitza Stark Added phenotypes Muscular dystrophy, Fukuyama for gene: FKTN
Additional findings_Paediatric v0.2 FKRP Zornitza Stark Added phenotypes Muscle-eye-brain disease for gene: FKRP
Additional findings_Paediatric v0.2 FKRP Zornitza Stark Added phenotypes Muscular dystrophy, limb girdle 2I for gene: FKRP
Additional findings_Paediatric v0.2 FHL1 Zornitza Stark Added phenotypes Emery-Dreifuss muscular dystrophy for gene: FHL1
Additional findings_Paediatric v0.2 FH Zornitza Stark Added phenotypes Fumarase deficiency for gene: FH
Additional findings_Paediatric v0.2 FGG Zornitza Stark Added phenotypes Afibrinogenaemia for gene: FGG
Additional findings_Paediatric v0.2 FGFR3 Zornitza Stark Added phenotypes Muenke syndrome for gene: FGFR3
Additional findings_Paediatric v0.2 FGFR3 Zornitza Stark Added phenotypes Thanatophoric dysplasia type 1 for gene: FGFR3
Additional findings_Paediatric v0.2 FGFR3 Zornitza Stark Added phenotypes Crouzon syndrome with acanthosis nigricans for gene: FGFR3
Additional findings_Paediatric v0.2 FGFR3 Zornitza Stark Added phenotypes Hypochondroplasia for gene: FGFR3
Additional findings_Paediatric v0.2 FGFR3 Zornitza Stark Added phenotypes Achondroplasia for gene: FGFR3
Additional findings_Paediatric v0.2 FGFR2 Zornitza Stark Added phenotypes Jackson-Weiss syndrome for gene: FGFR2
Additional findings_Paediatric v0.2 FGFR2 Zornitza Stark Added phenotypes Beare-Stevenson cutis gyrata syndrome for gene: FGFR2
Additional findings_Paediatric v0.2 FGFR2 Zornitza Stark Added phenotypes Crouzon syndrome for gene: FGFR2
Additional findings_Paediatric v0.2 FGFR2 Zornitza Stark Added phenotypes Apert syndrome for gene: FGFR2
Additional findings_Paediatric v0.2 FGFR2 Zornitza Stark Added phenotypes Pfeiffer syndrome for gene: FGFR2
Additional findings_Paediatric v0.2 FGFR1 Zornitza Stark Added phenotypes Kallmann syndrome for gene: FGFR1
Additional findings_Paediatric v0.2 FGF3 Zornitza Stark Added phenotypes Deafness, congenital with inner ear agenesis, microtia, and microdontia for gene: FGF3
Additional findings_Paediatric v0.2 FGD4 Zornitza Stark Added phenotypes Charcot-Marie-Tooth disease for gene: FGD4
Additional findings_Paediatric v0.2 FGD1 Zornitza Stark Added phenotypes Aarskog-Scott syndrome for gene: FGD1
Additional findings_Paediatric v0.2 FGB Zornitza Stark Added phenotypes Afibrinogenaemia for gene: FGB
Additional findings_Paediatric v0.2 FGA Zornitza Stark Added phenotypes Afibrinogenaemia for gene: FGA
Additional findings_Paediatric v0.2 FBN2 Zornitza Stark Added phenotypes Contractural arachnodactyly for gene: FBN2
Additional findings_Paediatric v0.2 FBN1 Zornitza Stark Added phenotypes Marfan's syndrome for gene: FBN1
Additional findings_Paediatric v0.2 FBLN5 Zornitza Stark Added phenotypes Cutis laxa for gene: FBLN5
Additional findings_Paediatric v0.2 FANCI Zornitza Stark Added phenotypes Fanconi anaemia for gene: FANCI
Additional findings_Paediatric v0.2 FANCG Zornitza Stark Added phenotypes Fanconi anaemia for gene: FANCG
Additional findings_Paediatric v0.2 FANCD2 Zornitza Stark Added phenotypes Fanconi anaemia for gene: FANCD2
Additional findings_Paediatric v0.2 FANCC Zornitza Stark Added phenotypes Fanconi anaemia for gene: FANCC
Additional findings_Paediatric v0.2 FANCB Zornitza Stark Added phenotypes Fanconi anaemia for gene: FANCB
Additional findings_Paediatric v0.2 FANCA Zornitza Stark Added phenotypes Fanconi anaemia for gene: FANCA
Additional findings_Paediatric v0.2 FAM58A Zornitza Stark Added phenotypes Syndactyly - telecanthus - anogenital and renal malformations for gene: FAM58A
Additional findings_Paediatric v0.2 FAM20C Zornitza Stark Added phenotypes Osteosclerotic bone dysplasia for gene: FAM20C
Additional findings_Paediatric v0.2 FAM161A Zornitza Stark Added phenotypes Retinal dystrophy for gene: FAM161A
Additional findings_Paediatric v0.2 FAM126A Zornitza Stark Added phenotypes Hypomyelination and congenital cataract for gene: FAM126A
Additional findings_Paediatric v0.2 FAH Zornitza Stark Added phenotypes Tyrosinemia, type I for gene: FAH
Additional findings_Paediatric v0.2 F9 Zornitza Stark Added phenotypes Hemophilia B for gene: F9
Additional findings_Paediatric v0.2 F8 Zornitza Stark Added phenotypes Hemophilia A for gene: F8
Additional findings_Paediatric v0.2 F2 Zornitza Stark Added phenotypes Prothrombin deficiency for gene: F2
Additional findings_Paediatric v0.2 F11 Zornitza Stark Added phenotypes Factor XI deficiency for gene: F11
Additional findings_Paediatric v0.2 EZH2 Zornitza Stark Added phenotypes Weaver syndrome 2 for gene: EZH2
Additional findings_Paediatric v0.2 EYA4 Zornitza Stark Added phenotypes Deafness, autosomal dominant for gene: EYA4
Additional findings_Paediatric v0.2 EYA1 Zornitza Stark Added phenotypes Branchiootorenal syndrome for gene: EYA1
Additional findings_Paediatric v0.2 EXT2 Zornitza Stark Added phenotypes Exostoses, multiple, type 2 for gene: EXT2
Additional findings_Paediatric v0.2 EXT1 Zornitza Stark Added phenotypes Exostoses, multiple, type 1 for gene: EXT1
Additional findings_Paediatric v0.2 EVC2 Zornitza Stark Added phenotypes Ellis-van Creveld syndrome for gene: EVC2
Additional findings_Paediatric v0.2 EVC Zornitza Stark Added phenotypes Ellis-van Creveld syndrome for gene: EVC
Additional findings_Paediatric v0.2 ETHE1 Zornitza Stark Added phenotypes Ethylmalonic encephalopathy for gene: ETHE1
Additional findings_Paediatric v0.2 ETFDH Zornitza Stark Added phenotypes Glutaric acidemia IIC for gene: ETFDH
Additional findings_Paediatric v0.2 ETFB Zornitza Stark Added phenotypes Glutaric acidemia IIB for gene: ETFB
Additional findings_Paediatric v0.2 ETFA Zornitza Stark Added phenotypes Glutaric acidemia IIA for gene: ETFA
Additional findings_Paediatric v0.2 ESRRB Zornitza Stark Added phenotypes Hearing loss for gene: ESRRB
Additional findings_Paediatric v0.2 ESCO2 Zornitza Stark Added phenotypes Roberts syndrome for gene: ESCO2
Additional findings_Paediatric v0.2 ERCC8 Zornitza Stark Added phenotypes Cockayne syndrome for gene: ERCC8
Additional findings_Paediatric v0.2 ERCC6 Zornitza Stark Added phenotypes Cockayne syndrome for gene: ERCC6
Additional findings_Paediatric v0.2 ERCC5 Zornitza Stark Added phenotypes Xeroderma pigmentosum for gene: ERCC5
Additional findings_Paediatric v0.2 ERCC2 Zornitza Stark Added phenotypes Xeroderma pigmentosum for gene: ERCC2
Additional findings_Paediatric v0.2 EPM2A Zornitza Stark Added phenotypes Epilepsy, progressive myoclonic 2A (Lafora) for gene: EPM2A
Additional findings_Paediatric v0.2 ENPP1 Zornitza Stark Added phenotypes Arterial calcification, generalized, of infancy, 1 for gene: ENPP1
Additional findings_Paediatric v0.2 ENG Zornitza Stark Added phenotypes Telangiectasia, hereditary hemorrhagic, type 1 for gene: ENG
Additional findings_Paediatric v0.2 EMD Zornitza Stark Added phenotypes Muscular dystrophy, Emery-Dreifuss for gene: EMD
Additional findings_Paediatric v0.2 ELN Zornitza Stark Added phenotypes Supravalvar aortic stenosis for gene: ELN
Additional findings_Paediatric v0.2 ELANE Zornitza Stark Added phenotypes Neutropenia, congenital for gene: ELANE
Additional findings_Paediatric v0.2 EIF2AK3 Zornitza Stark Added phenotypes Wolcott-Rallison syndrome for gene: EIF2AK3
Additional findings_Paediatric v0.2 EGR2 Zornitza Stark Added phenotypes Charcot-Marie-Tooth disease for gene: EGR2
Additional findings_Paediatric v0.2 EFTUD2 Zornitza Stark Added phenotypes Mandibulofacial dysostosis with microcephaly for gene: EFTUD2
Additional findings_Paediatric v0.2 EFHC1 Zornitza Stark Added phenotypes Myoclonic epilepsy for gene: EFHC1
Additional findings_Paediatric v0.2 EDARADD Zornitza Stark Added phenotypes Ectodermal dysplasia, hypohidrotic for gene: EDARADD
Additional findings_Paediatric v0.2 EDAR Zornitza Stark Added phenotypes Ectodermal dysplasia, hypohidrotic for gene: EDAR
Additional findings_Paediatric v0.2 EDA Zornitza Stark Added phenotypes Ectodermal dysplasia, hypohidrotic for gene: EDA
Additional findings_Paediatric v0.2 DYSF Zornitza Stark Added phenotypes Miyoshi muscular dystrophy 1 for gene: DYSF
Additional findings_Paediatric v0.2 DYSF Zornitza Stark Added phenotypes Muscular dystrophy, limb-girdle, type 2B for gene: DYSF
Additional findings_Paediatric v0.2 DUOX2 Zornitza Stark Added phenotypes Thyroid dyshormonogenesis for gene: DUOX2
Additional findings_Paediatric v0.2 DSP Zornitza Stark Added phenotypes Epidermolysis bullosa, lethal acantholytic for gene: DSP
Additional findings_Paediatric v0.2 DPAGT1 Zornitza Stark Added phenotypes Congenital disorder of glycosylation, type Ij for gene: DPAGT1
Additional findings_Paediatric v0.2 DOK7 Zornitza Stark Added phenotypes Congenital myasthenic syndrome for gene: DOK7
Additional findings_Paediatric v0.2 DOCK8 Zornitza Stark Added phenotypes Hyper-IgE syndrome for gene: DOCK8
Additional findings_Paediatric v0.2 DNMT3B Zornitza Stark Added phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 1 for gene: DNMT3B
Additional findings_Paediatric v0.2 DNM2 Zornitza Stark Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2M for gene: DNM2
Additional findings_Paediatric v0.2 DNM2 Zornitza Stark Added phenotypes Myopathy, centronuclear for gene: DNM2
Additional findings_Paediatric v0.2 DNAJB6 Zornitza Stark Added phenotypes Muscular dystrophy, limb girdle for gene: DNAJB6
Additional findings_Paediatric v0.2 DNAI1 Zornitza Stark Added phenotypes Primary ciliary dyskinesia for gene: DNAI1
Additional findings_Paediatric v0.2 DNAH5 Zornitza Stark Added phenotypes Primary ciliary dyskinesia for gene: DNAH5
Additional findings_Paediatric v0.2 DNAH11 Zornitza Stark Added phenotypes Primary ciliary dyskinesia for gene: DNAH11
Additional findings_Paediatric v0.2 DNAAF1 Zornitza Stark Added phenotypes Primary ciliary dyskinesia for gene: DNAAF1
Additional findings_Paediatric v0.2 DMPK Zornitza Stark Added phenotypes Myotonic dystrophy 1 for gene: DMPK
Additional findings_Paediatric v0.2 DMP1 Zornitza Stark Added phenotypes Hypophosphatemic rickets, AR for gene: DMP1
Additional findings_Paediatric v0.2 DMD Zornitza Stark Added phenotypes Becker muscular dystrophy for gene: DMD
Additional findings_Paediatric v0.2 DMD Zornitza Stark Added phenotypes Duchenne muscular dystrophy for gene: DMD
Additional findings_Paediatric v0.2 DLL3 Zornitza Stark Added phenotypes Spondylocostal dysostosis, autosomal recessive, 1 for gene: DLL3
Additional findings_Paediatric v0.2 DLD Zornitza Stark Added phenotypes Maple syrup urine disease, type III for gene: DLD
Additional findings_Paediatric v0.2 DHCR7 Zornitza Stark Added phenotypes Smith-Lemli-Opitz syndrome for gene: DHCR7
Additional findings_Paediatric v0.2 DGUOK Zornitza Stark Added phenotypes Mitochondrial DNA depletion syndrome for gene: DGUOK
Additional findings_Paediatric v0.2 DFNB59 Zornitza Stark Added phenotypes Hearing loss for gene: DFNB59
Additional findings_Paediatric v0.2 DFNA5 Zornitza Stark Added phenotypes Hearing loss for gene: DFNA5
Additional findings_Paediatric v0.2 DES Zornitza Stark Added phenotypes Myopathy, myofibrillar for gene: DES
Additional findings_Paediatric v0.2 DDC Zornitza Stark Added phenotypes Aromatic L-amino acid decarboxylase deficiency for gene: DDC
Additional findings_Paediatric v0.2 DDB2 Zornitza Stark Added phenotypes Xeroderma pigmentosum for gene: DDB2
Additional findings_Paediatric v0.2 DCX Zornitza Stark Added phenotypes Lissencephaly, X-linked for gene: DCX
Additional findings_Paediatric v0.2 DCLRE1C Zornitza Stark Added phenotypes Severe combined immunodeficiency, Athabascan type for gene: DCLRE1C
Additional findings_Paediatric v0.2 DBT Zornitza Stark Added phenotypes Maple syrup urine disease for gene: DBT
Additional findings_Paediatric v0.2 D2HGDH Zornitza Stark Added phenotypes D-2-hydroxyglutaric aciduria for gene: D2HGDH
Additional findings_Paediatric v0.2 CYP4F22 Zornitza Stark Added phenotypes Ichthyosis, congenital, autosomal recessive for gene: CYP4F22
Additional findings_Paediatric v0.2 CYP27B1 Zornitza Stark Added phenotypes Vitamin D-dependent rickets, type I for gene: CYP27B1
Additional findings_Paediatric v0.2 CYP27A1 Zornitza Stark Added phenotypes Cerebrotendinous xanthomatosis for gene: CYP27A1
Additional findings_Paediatric v0.2 CYP21A2 Zornitza Stark Added phenotypes Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency for gene: CYP21A2
Additional findings_Paediatric v0.2 CYP11B1 Zornitza Stark Added phenotypes Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency for gene: CYP11B1
Additional findings_Paediatric v0.2 CYP11A1 Zornitza Stark Added phenotypes Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete for gene: CYP11A1
Additional findings_Paediatric v0.2 CYBB Zornitza Stark Added phenotypes Chronic granulomatous disease for gene: CYBB
Additional findings_Paediatric v0.2 CYBA Zornitza Stark Added phenotypes Chronic granulomatous disease for gene: CYBA
Additional findings_Paediatric v0.2 CUL7 Zornitza Stark Added phenotypes 3-M syndrome for gene: CUL7
Additional findings_Paediatric v0.2 CUBN Zornitza Stark Added phenotypes Megaloblastic anemia-1, Finnish type for gene: CUBN
Additional findings_Paediatric v0.2 CTSK Zornitza Stark Added phenotypes Pycnodysostosis for gene: CTSK
Additional findings_Paediatric v0.2 CTSD Zornitza Stark Added phenotypes Ceroid lipofuscinosis, neuronal, 10 for gene: CTSD
Additional findings_Paediatric v0.2 CTNS Zornitza Stark Added phenotypes Cystinosis for gene: CTNS
Additional findings_Paediatric v0.2 CTC1 Zornitza Stark Added phenotypes Coats plus syndrome for gene: CTC1
Additional findings_Paediatric v0.2 CSTB Zornitza Stark Added phenotypes Epilepsy, progressive myoclonic 1A for gene: CSTB
Additional findings_Paediatric v0.2 CSF2RA Zornitza Stark Added phenotypes Pulmonary alveolar proteinosis for gene: CSF2RA
Additional findings_Paediatric v0.2 CRYAB Zornitza Stark Added phenotypes Myofibrillar myopathy for gene: CRYAB
Additional findings_Paediatric v0.2 CRTAP Zornitza Stark Added phenotypes Osteogenesis imperfecta, type VII for gene: CRTAP
Additional findings_Paediatric v0.2 CRLF1 Zornitza Stark Added phenotypes Crisponi syndrome for gene: CRLF1
Additional findings_Paediatric v0.2 CREBBP Zornitza Stark Added phenotypes Rubinstein-Taybi syndrome for gene: CREBBP
Additional findings_Paediatric v0.2 CPT2 Zornitza Stark Added phenotypes Carnitine palmitoyltransferase 2 deficiency for gene: CPT2
Additional findings_Paediatric v0.2 CPT1A Zornitza Stark Added phenotypes Carnitine palmitoyltransferase I deficiency for gene: CPT1A
Additional findings_Paediatric v0.2 CPS1 Zornitza Stark Added phenotypes Carbamoylphosphate synthetase I deficiency for gene: CPS1
Additional findings_Paediatric v0.2 COLQ Zornitza Stark Added phenotypes Congenital myasthenic syndrome for gene: COLQ
Additional findings_Paediatric v0.2 COL7A1 Zornitza Stark Added phenotypes Epidermolysis bullosa dystrophica for gene: COL7A1
Additional findings_Paediatric v0.2 COL6A3 Zornitza Stark Added phenotypes Ullrich congenital muscular dystrophy for gene: COL6A3
Additional findings_Paediatric v0.2 COL6A2 Zornitza Stark Added phenotypes Ullrich congenital muscular dystrophy for gene: COL6A2
Additional findings_Paediatric v0.2 COL6A1 Zornitza Stark Added phenotypes Ullrich congenital muscular dystrophy for gene: COL6A1
Additional findings_Paediatric v0.2 COL5A2 Zornitza Stark Added phenotypes Ehlers-Danlos syndrome for gene: COL5A2
Additional findings_Paediatric v0.2 COL5A1 Zornitza Stark Added phenotypes Ehlers-Danlos syndrome, type I for gene: COL5A1
Additional findings_Paediatric v0.2 COL4A5 Zornitza Stark Added phenotypes Alport syndrome for gene: COL4A5
Additional findings_Paediatric v0.2 COL4A4 Zornitza Stark Added phenotypes Alport syndrome for gene: COL4A4
Additional findings_Paediatric v0.2 COL4A3 Zornitza Stark Added phenotypes Alport syndrome for gene: COL4A3
Additional findings_Paediatric v0.2 COL3A1 Zornitza Stark Added phenotypes Ehlers-Danlos syndrome, type IV for gene: COL3A1
Additional findings_Paediatric v0.2 COL2A1 Zornitza Stark Added phenotypes Stickler syndrome for gene: COL2A1
Additional findings_Paediatric v0.2 COL1A2 Zornitza Stark Added phenotypes Osteogenesis imperfecta, type II for gene: COL1A2
Additional findings_Paediatric v0.2 COL1A1 Zornitza Stark Added phenotypes Osteogenesis imperfecta, type I for gene: COL1A1
Additional findings_Paediatric v0.2 COL17A1 Zornitza Stark Added phenotypes Epidermolysis bullosa, junctional, non-Herlitz type for gene: COL17A1
Additional findings_Paediatric v0.2 COL11A2 Zornitza Stark Added phenotypes Otospondylomegaepiphyseal dysplasia for gene: COL11A2
Additional findings_Paediatric v0.2 COL11A1 Zornitza Stark Added phenotypes Stickler syndrome for gene: COL11A1
Additional findings_Paediatric v0.2 COCH Zornitza Stark Added phenotypes Deafness, non-syndromic, autosomal dominant for gene: COCH
Additional findings_Paediatric v0.2 CNGB3 Zornitza Stark Added phenotypes Achromatopsia-3 for gene: CNGB3
Additional findings_Paediatric v0.2 CLRN1 Zornitza Stark Added phenotypes Usher syndrome, type 3A for gene: CLRN1
Additional findings_Paediatric v0.2 CLN8 Zornitza Stark Added phenotypes Ceroid lipofuscinosis, neuronal, 8 for gene: CLN8
Additional findings_Paediatric v0.2 CLN6 Zornitza Stark Added phenotypes Ceroid lipofuscinosis, neuronal, 6 for gene: CLN6
Additional findings_Paediatric v0.2 CLN5 Zornitza Stark Added phenotypes Ceroid lipofuscinosis, neuronal, 5 for gene: CLN5
Additional findings_Paediatric v0.2 CLN3 Zornitza Stark Added phenotypes Ceroid lipofuscinosis, neuronal, 3 for gene: CLN3
Additional findings_Paediatric v0.2 CLDN19 Zornitza Stark Added phenotypes Hypomagnesemia 5, renal, with ocular involvement for gene: CLDN19
Additional findings_Paediatric v0.2 CLDN14 Zornitza Stark Added phenotypes Hearing loss, non-syndromic, autosomal recessive for gene: CLDN14
Additional findings_Paediatric v0.2 CLCN5 Zornitza Stark Added phenotypes Dent disease for gene: CLCN5
Additional findings_Paediatric v0.2 CHRNG Zornitza Stark Added phenotypes Pterygium syndrome for gene: CHRNG
Additional findings_Paediatric v0.2 CHRNE Zornitza Stark Added phenotypes Congenital myasthenic syndrome for gene: CHRNE
Additional findings_Paediatric v0.2 CHRND Zornitza Stark Added phenotypes Congenital myasthenic syndrome for gene: CHRND
Additional findings_Paediatric v0.2 CHRNA1 Zornitza Stark Added phenotypes Congenital myasthenic syndrome for gene: CHRNA1
Additional findings_Paediatric v0.2 CHM Zornitza Stark Added phenotypes Choroideremia for gene: CHM
Additional findings_Paediatric v0.2 CHKB Zornitza Stark Added phenotypes Muscular dystrophy, congenital, megaconial type for gene: CHKB
Additional findings_Paediatric v0.2 CHD7 Zornitza Stark Added phenotypes CHARGE syndrome for gene: CHD7
Additional findings_Paediatric v0.2 CHD2 Zornitza Stark Added phenotypes Developmental delay, intellectual disability, epilepsy for gene: CHD2
Additional findings_Paediatric v0.2 CHAT Zornitza Stark Added phenotypes Congenital myasthenic syndrome for gene: CHAT
Additional findings_Paediatric v0.2 CFTR Zornitza Stark Added phenotypes Cystic fibrosis for gene: CFTR
Additional findings_Paediatric v0.2 CFP Zornitza Stark Added phenotypes Properdin deficiency, X-linked for gene: CFP
Additional findings_Paediatric v0.2 CFL2 Zornitza Stark Added phenotypes Nemaline myopathy for gene: CFL2
Additional findings_Paediatric v0.2 CFC1 Zornitza Stark Added phenotypes Congenital heart defects for gene: CFC1
Additional findings_Paediatric v0.2 CEP290 Zornitza Stark Added phenotypes Joubert syndrome for gene: CEP290
Additional findings_Paediatric v0.2 CEP152 Zornitza Stark Added phenotypes Seckel syndrome for gene: CEP152
Additional findings_Paediatric v0.2 CDSN Zornitza Stark Added phenotypes Hypotrichosis for gene: CDSN
Additional findings_Paediatric v0.2 CDKN1C Zornitza Stark Added phenotypes Beckwith-Wiedemann syndrome for gene: CDKN1C
Additional findings_Paediatric v0.2 CDKL5 Zornitza Stark Added phenotypes Epileptic encephalopathy, early infantile, 2 for gene: CDKL5
Additional findings_Paediatric v0.2 CDH23 Zornitza Stark Added phenotypes Usher syndrome, type 1D for gene: CDH23
Additional findings_Paediatric v0.2 CDH23 Zornitza Stark Added phenotypes Deafness, autosomal recessive for gene: CDH23
Additional findings_Paediatric v0.2 CDAN1 Zornitza Stark Added phenotypes Anemia, congenital dyserythropoietic, type I for gene: CDAN1
Additional findings_Paediatric v0.2 CD40LG Zornitza Stark Added phenotypes Immunodeficiency, X-linked, with hyper-IgM for gene: CD40LG
Additional findings_Paediatric v0.2 CCDC40 Zornitza Stark Added phenotypes Primary ciliary dyskinesia for gene: CCDC40
Additional findings_Paediatric v0.2 CCDC39 Zornitza Stark Added phenotypes Primary ciliary dyskinesia for gene: CCDC39
Additional findings_Paediatric v0.2 CC2D2A Zornitza Stark Added phenotypes Joubert syndrome for gene: CC2D2A
Additional findings_Paediatric v0.2 CBS Zornitza Stark Added phenotypes Homocystinuria, B6-responsive and nonresponsive types for gene: CBS
Additional findings_Paediatric v0.2 CBL Zornitza Stark Added phenotypes Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia for gene: CBL
Additional findings_Paediatric v0.2 CAV3 Zornitza Stark Added phenotypes Caveolinopathy for gene: CAV3
Additional findings_Paediatric v0.2 CAV3 Zornitza Stark Added phenotypes Muscular dystrophy, limb-girdle, type IC, for gene: CAV3
Additional findings_Paediatric v0.2 CASQ2 Zornitza Stark Added phenotypes Ventricular tachycardia, catecholaminergic polymorphic for gene: CASQ2
Additional findings_Paediatric v0.2 CASK Zornitza Stark Added phenotypes Mental retardation and microcephaly with pontine and cerebellar hypoplasia for gene: CASK
Additional findings_Paediatric v0.2 CAPN3 Zornitza Stark Added phenotypes Muscular dystrophy, limb-girdle, type 2A for gene: CAPN3
Additional findings_Paediatric v0.2 CACNA1F Zornitza Stark Added phenotypes Night blindness, congenital stationary (complete), 1A, X-linked for gene: CACNA1F
Additional findings_Paediatric v0.2 CACNA1A Zornitza Stark Added phenotypes Episodic ataxia, type 2 for gene: CACNA1A
Additional findings_Paediatric v0.2 CA2 Zornitza Stark Added phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis for gene: CA2
Additional findings_Paediatric v0.2 TWNK Zornitza Stark Added phenotypes Spinocerebellar ataxia infantile-onset for gene: TWNK
Additional findings_Paediatric v0.2 BTK Zornitza Stark Added phenotypes Agammaglobulinemia, X-linked 1 for gene: BTK
Additional findings_Paediatric v0.2 BTD Zornitza Stark Added phenotypes Biotinidase deficiency for gene: BTD
Additional findings_Paediatric v0.2 BSND Zornitza Stark Added phenotypes Bartter syndrome with sensorineural deafness for gene: BSND
Additional findings_Paediatric v0.2 BSCL2 Zornitza Stark Added phenotypes Berardinelli-Seip lipodystrophy for gene: BSCL2
Additional findings_Paediatric v0.2 BRCA2 Zornitza Stark Added phenotypes Fanconi anemia, complementation group D1 for gene: BRCA2
Additional findings_Paediatric v0.2 BRAF Zornitza Stark Added phenotypes Cardiofaciocutaneous syndrome for gene: BRAF
Additional findings_Paediatric v0.2 BMPR1A Zornitza Stark Added phenotypes Juvenile polyposis syndrome for gene: BMPR1A
Additional findings_Paediatric v0.2 BLM Zornitza Stark Added phenotypes Bloom syndrome for gene: BLM
Additional findings_Paediatric v0.2 BIN1 Zornitza Stark Added phenotypes Myopathy, centronuclear, autosomal recessive for gene: BIN1
Additional findings_Paediatric v0.2 BICD2 Zornitza Stark Added phenotypes Congenital spinal muscular atrophy for gene: BICD2
Additional findings_Paediatric v0.2 BCS1L Zornitza Stark Added phenotypes Complex 3 deficiency for gene: BCS1L
Additional findings_Paediatric v0.2 BCKDHB Zornitza Stark Added phenotypes Maple syrup urine disease for gene: BCKDHB
Additional findings_Paediatric v0.2 BCKDHA Zornitza Stark Added phenotypes Maple syrup urine disease for gene: BCKDHA
Additional findings_Paediatric v0.2 BBS9 Zornitza Stark Added phenotypes Bardet-Biedl syndrome for gene: BBS9
Additional findings_Paediatric v0.2 BBS7 Zornitza Stark Added phenotypes Bardet-Biedl syndrome for gene: BBS7
Additional findings_Paediatric v0.2 BBS5 Zornitza Stark Added phenotypes Bardet-Biedl syndrome for gene: BBS5
Additional findings_Paediatric v0.2 BBS4 Zornitza Stark Added phenotypes Bardet-Biedl syndrome for gene: BBS4
Additional findings_Paediatric v0.2 BBS2 Zornitza Stark Added phenotypes Bardet-Biedl syndrome for gene: BBS2
Additional findings_Paediatric v0.2 BBS12 Zornitza Stark Added phenotypes Bardet-Biedl syndrome for gene: BBS12
Additional findings_Paediatric v0.2 BBS10 Zornitza Stark Added phenotypes Bardet-Biedl syndrome for gene: BBS10
Additional findings_Paediatric v0.2 BBS1 Zornitza Stark Added phenotypes Bardet-Biedl syndrome for gene: BBS1
Additional findings_Paediatric v0.2 BAAT Zornitza Stark Added phenotypes Bile acid amidation defect for gene: BAAT
Additional findings_Paediatric v0.2 B3GLCT Zornitza Stark Added phenotypes Peters-Plus syndrome for gene: B3GLCT
Additional findings_Paediatric v0.2 AVPR2 Zornitza Stark Added phenotypes Diabetes insipidus, nephrogenic for gene: AVPR2
Additional findings_Paediatric v0.2 AUH Zornitza Stark Added phenotypes 3-methylglutaconic aciduria, type I for gene: AUH
Additional findings_Paediatric v0.2 ATRX Zornitza Stark Added phenotypes Alpha-thalassemia/mental retardation syndrome for gene: ATRX
Additional findings_Paediatric v0.2 ATP8B1 Zornitza Stark Added phenotypes Cholestasis, progressive familial intrahepatic 1 for gene: ATP8B1
Additional findings_Paediatric v0.2 ATP7B Zornitza Stark Added phenotypes Wilson disease for gene: ATP7B
Additional findings_Paediatric v0.2 ATP7A Zornitza Stark Added phenotypes Occipital horn syndrome for gene: ATP7A
Additional findings_Paediatric v0.2 ATP7A Zornitza Stark Added phenotypes Menkes syndrome for gene: ATP7A
Additional findings_Paediatric v0.2 ATP6V1B1 Zornitza Stark Added phenotypes Renal tubular acidosis & hearing loss for gene: ATP6V1B1
Additional findings_Paediatric v0.2 ATP6V0A2 Zornitza Stark Added phenotypes Cutis laxa, autosomal recessive, type IIA for gene: ATP6V0A2
Additional findings_Paediatric v0.2 ATP2A1 Zornitza Stark Added phenotypes Brody myopathy for gene: ATP2A1
Additional findings_Paediatric v0.2 ATP1A2 Zornitza Stark Added phenotypes Hemiplegic migraine for gene: ATP1A2
Additional findings_Paediatric v0.2 ATM Zornitza Stark Added phenotypes Ataxia-telangiectasia for gene: ATM
Additional findings_Paediatric v0.2 ASS1 Zornitza Stark Added phenotypes Citrullinemia for gene: ASS1
Additional findings_Paediatric v0.2 ASPA Zornitza Stark Added phenotypes Canavan disease for gene: ASPA
Additional findings_Paediatric v0.2 ASL Zornitza Stark Added phenotypes Argininosuccinic aciduria for gene: ASL
Additional findings_Paediatric v0.2 ARX Zornitza Stark Added phenotypes Lissencephaly, X-linked 2 for gene: ARX
Additional findings_Paediatric v0.2 ARSB Zornitza Stark Added phenotypes Mucopolysaccharidosis type VI (Maroteaux-Lamy) for gene: ARSB
Additional findings_Paediatric v0.2 ARSA Zornitza Stark Added phenotypes Metachromatic leukodystrophy for gene: ARSA
Additional findings_Paediatric v0.2 ARMC4 Zornitza Stark Added phenotypes Primary ciliary dyskinesia for gene: ARMC4
Additional findings_Paediatric v0.2 ARID1B Zornitza Stark Added phenotypes Coffin-Siris syndrome for gene: ARID1B
Additional findings_Paediatric v0.2 ARG1 Zornitza Stark Added phenotypes Arginase deficiency for gene: ARG1
Additional findings_Paediatric v0.2 ARFGEF2 Zornitza Stark Added phenotypes Periventricular heterotopia with microcephaly for gene: ARFGEF2
Additional findings_Paediatric v0.2 AR Zornitza Stark Added phenotypes Androgen insensitivity for gene: AR
Additional findings_Paediatric v0.2 APTX Zornitza Stark Added phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia for gene: APTX
Additional findings_Paediatric v0.2 APOB Zornitza Stark Added phenotypes Apolipoprotein B deficiency for gene: APOB
Additional findings_Paediatric v0.2 APC Zornitza Stark Added phenotypes Adenomatous polyposis coli, attenuated for gene: APC
Additional findings_Paediatric v0.2 APC Zornitza Stark Added phenotypes Adenomatous polyposis coli for gene: APC
Additional findings_Paediatric v0.2 AP3B1 Zornitza Stark Added phenotypes Hermansky-Pudlak syndrome 2 for gene: AP3B1
Additional findings_Paediatric v0.2 ANTXR2 Zornitza Stark Added phenotypes Hyaline fibromatosis syndrome for gene: ANTXR2
Additional findings_Paediatric v0.2 ANO5 Zornitza Stark Added phenotypes Muscular dystrophy, limb-girdle, type 2L for gene: ANO5
Additional findings_Paediatric v0.2 ANO10 Zornitza Stark Added phenotypes Spinocerebellar ataxia, autosomal recessive 10 for gene: ANO10
Additional findings_Paediatric v0.2 ANKRD26 Zornitza Stark Added phenotypes Thrombocytopenia 2 for gene: ANKRD26
Additional findings_Paediatric v0.2 ANKH Zornitza Stark Added phenotypes Craniometaphyseal dysplasia for gene: ANKH
Additional findings_Paediatric v0.2 ANK1 Zornitza Stark Added phenotypes Spherocytosis for gene: ANK1
Additional findings_Paediatric v0.2 AMT Zornitza Stark Added phenotypes Hyperglycinaemia, non-ketotic for gene: AMT
Additional findings_Paediatric v0.2 AMN Zornitza Stark Added phenotypes Megaloblastic anemia-1, Norwegian type for gene: AMN
Additional findings_Paediatric v0.2 AMELX Zornitza Stark Added phenotypes Amelogenesis imperfecta for gene: AMELX
Additional findings_Paediatric v0.2 ALX4 Zornitza Stark Added phenotypes Parietal foramina 2 for gene: ALX4
Additional findings_Paediatric v0.2 ALS2 Zornitza Stark Added phenotypes Amyotrophic lateral sclerosis for gene: ALS2
Additional findings_Paediatric v0.2 ALPL Zornitza Stark Added phenotypes Hypophosphatasia for gene: ALPL
Additional findings_Paediatric v0.2 ALOXE3 Zornitza Stark Added phenotypes Ichthyosis, congenital, autosomal recessive for gene: ALOXE3
Additional findings_Paediatric v0.2 ALOX12B Zornitza Stark Added phenotypes Ichthyosis, congenital, autosomal recessive for gene: ALOX12B
Additional findings_Paediatric v0.2 ALMS1 Zornitza Stark Added phenotypes Alstrom syndrome for gene: ALMS1
Additional findings_Paediatric v0.2 ALG8 Zornitza Stark Added phenotypes Congenital disorder of glycosylation, type Ih for gene: ALG8
Additional findings_Paediatric v0.2 ALG6 Zornitza Stark Added phenotypes Congenital disorder of glycosylation, type Ic for gene: ALG6
Additional findings_Paediatric v0.2 ALG3 Zornitza Stark Added phenotypes Congenital disorder of glycosylation, type Id for gene: ALG3
Additional findings_Paediatric v0.2 ALG12 Zornitza Stark Added phenotypes Congenital disorder of glycosylation, type Ig for gene: ALG12
Additional findings_Paediatric v0.2 ALG1 Zornitza Stark Added phenotypes Congenital disorder of glycosylation, type Ik for gene: ALG1
Additional findings_Paediatric v0.2 ALDOB Zornitza Stark Added phenotypes Fructose intolerance for gene: ALDOB
Additional findings_Paediatric v0.2 ALDH5A1 Zornitza Stark Added phenotypes Succinic semialdehyde dehydrogenase deficiency for gene: ALDH5A1
Additional findings_Paediatric v0.2 ALDH3A2 Zornitza Stark Added phenotypes Sjogren-Larsson syndrome for gene: ALDH3A2
Additional findings_Paediatric v0.2 ALDH18A1 Zornitza Stark Added phenotypes Cutis laxa, autosomal recessive, type IIIA for gene: ALDH18A1
Additional findings_Paediatric v0.2 ALB Zornitza Stark Added phenotypes Analbuminemia for gene: ALB
Additional findings_Paediatric v0.2 ALAS2 Zornitza Stark Added phenotypes Anemia, sideroblastic, X-linked for gene: ALAS2
Additional findings_Paediatric v0.2 AKR1D1 Zornitza Stark Added phenotypes Bile acid synthesis defect, congenital, 2 for gene: AKR1D1
Additional findings_Paediatric v0.2 AIRE Zornitza Stark Added phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia for gene: AIRE
Additional findings_Paediatric v0.2 AIFM1 Zornitza Stark Added phenotypes Cowchock syndrome for gene: AIFM1
Additional findings_Paediatric v0.2 AHI1 Zornitza Stark Added phenotypes Joubert syndrome-3 for gene: AHI1
Additional findings_Paediatric v0.2 AGXT Zornitza Stark Added phenotypes Hyperoxaluria, primary, type 1 for gene: AGXT
Additional findings_Paediatric v0.2 AGRN Zornitza Stark Added phenotypes Myasthenia, limb-girdle, familial for gene: AGRN
Additional findings_Paediatric v0.2 AGL Zornitza Stark Added phenotypes Glycogen storage disease IIIa for gene: AGL
Additional findings_Paediatric v0.2 AGA Zornitza Stark Added phenotypes Aspartylglucosaminuria for gene: AGA
Additional findings_Paediatric v0.2 ADK Zornitza Stark Added phenotypes Hypermethioninemia due to adenosine kinase deficiency for gene: ADK
Additional findings_Paediatric v0.2 ADAR Zornitza Stark Mode of inheritance for gene ADAR was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Dyschromatosis symmetrica hereditaria for gene: ADAR
Additional findings_Paediatric v0.2 ADAR Zornitza Stark Mode of inheritance for gene ADAR was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Aicardi-Goutieres syndrome for gene: ADAR
Additional findings_Paediatric v0.2 ADAMTSL2 Zornitza Stark Added phenotypes Geleophysic dysplasia 1 for gene: ADAMTSL2
Additional findings_Paediatric v0.2 ADAMTS13 Zornitza Stark Added phenotypes Thrombotic thrombocytopenic purpura, familial for gene: ADAMTS13
Additional findings_Paediatric v0.2 ADA Zornitza Stark Added phenotypes Severe combined immunodeficiency due to ADA deficiency for gene: ADA
Additional findings_Paediatric v0.2 ACVRL1 Zornitza Stark Added phenotypes Telangiectasia, hereditary hemorrhagic, type 2 for gene: ACVRL1
Additional findings_Paediatric v0.2 ACVR1 Zornitza Stark Added phenotypes Fibrodysplasia ossificans progressiva for gene: ACVR1
Additional findings_Paediatric v0.2 ACTN4 Zornitza Stark Added phenotypes Glomerulosclerosis, focal segmental, 1 for gene: ACTN4
Additional findings_Paediatric v0.2 ACTN1 Zornitza Stark Added phenotypes Macrothrombocytopenia for gene: ACTN1
Additional findings_Paediatric v0.2 ACTG2 Zornitza Stark Added phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome for gene: ACTG2
Additional findings_Paediatric v0.2 ACTG1 Zornitza Stark Added phenotypes Baraitser-Winter syndrome for gene: ACTG1
Additional findings_Paediatric v0.2 ACTG1 Zornitza Stark Added phenotypes Deafness, autosomal dominant for gene: ACTG1
Additional findings_Paediatric v0.2 ACTB Zornitza Stark Added phenotypes Baraitser-Winter syndrome for gene: ACTB
Additional findings_Paediatric v0.2 ACTA1 Zornitza Stark Added phenotypes Nemaline myopathy for gene: ACTA1
Additional findings_Paediatric v0.2 ACSF3 Zornitza Stark Added phenotypes Combined malonic and methylmalonic aciduria for gene: ACSF3
Additional findings_Paediatric v0.2 ACOX1 Zornitza Stark Added phenotypes Peroxisomal acyl-CoA oxidase deficiency for gene: ACOX1
Additional findings_Paediatric v0.2 ACE Zornitza Stark Added phenotypes Renal tubular dysgenesis for gene: ACE
Additional findings_Paediatric v0.2 ACAT1 Zornitza Stark Added phenotypes Alpha-methylacetoacetic aciduria for gene: ACAT1
Additional findings_Paediatric v0.2 ACADVL Zornitza Stark Added phenotypes VLCAD deficiency for gene: ACADVL
Additional findings_Paediatric v0.2 ACADM Zornitza Stark Added phenotypes Medium chain acyl CoA dehydrogenase deficiency for gene: ACADM
Additional findings_Paediatric v0.2 ACAD9 Zornitza Stark Added phenotypes ACAD9 deficiency for gene: ACAD9
Additional findings_Paediatric v0.2 ACAD8 Zornitza Stark Added phenotypes Isobutyryl-CoA dehydrogenase deficiency for gene: ACAD8
Additional findings_Paediatric v0.2 ABCG5 Zornitza Stark Added phenotypes Sitosterolemia for gene: ABCG5
Additional findings_Paediatric v0.2 ABCD1 Zornitza Stark Added phenotypes Adrenoleukodystrophy for gene: ABCD1
Additional findings_Paediatric v0.2 ABCC9 Zornitza Stark Added phenotypes Hypertrichotic osteochondrodysplasia for gene: ABCC9
Additional findings_Paediatric v0.2 ABCC8 Zornitza Stark Added phenotypes Hyperinsulinemic hypoglycemia, familial for gene: ABCC8
Additional findings_Paediatric v0.2 ABCC6 Zornitza Stark Added phenotypes Pseudoxanthoma elasticum for gene: ABCC6
Additional findings_Paediatric v0.2 ABCB4 Zornitza Stark Added phenotypes Cholestasis, progressive familial intrahepatic 3 for gene: ABCB4
Additional findings_Paediatric v0.2 ABCB11 Zornitza Stark Added phenotypes Cholestasis, progressive familial intrahepatic 2 for gene: ABCB11
Additional findings_Paediatric v0.2 ABCA4 Zornitza Stark Added phenotypes Stargardt disease for gene: ABCA4
Additional findings_Paediatric v0.2 ABCA3 Zornitza Stark Added phenotypes Surfactant metabolism dysfunction, pulmonary, 3 for gene: ABCA3
Additional findings_Paediatric v0.2 ABCA12 Zornitza Stark Added phenotypes Ichthyosis, congenital, autosomal recessive for gene: ABCA12
Additional findings_Paediatric v0.2 AARS Zornitza Stark Added phenotypes Charcot-Marie-Tooth disease for gene: AARS
Additional findings_Paediatric v0.2 AAAS Zornitza Stark Added phenotypes Achalasia-addisonianism-alacrimia syndrome for gene: AAAS
Additional findings_Paediatric v0.0 PDZD7 Zornitza Stark gene: PDZD7 was added
gene: PDZD7 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PDZD7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDZD7 were set to Usher syndrome
Additional findings_Paediatric v0.0 ADGRG1 Zornitza Stark gene: ADGRG1 was added
gene: ADGRG1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ADGRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADGRG1 were set to Polymicrogyria, bilateral frontoparietal
Additional findings_Paediatric v0.0 GPR143 Zornitza Stark gene: GPR143 was added
gene: GPR143 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GPR143 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GPR143 were set to Ocular albinism, type I
Additional findings_Paediatric v0.0 GPC3 Zornitza Stark gene: GPC3 was added
gene: GPC3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GPC3 were set to Simpson-Golabi-Behmel syndrome
Additional findings_Paediatric v0.0 GNS Zornitza Stark gene: GNS was added
gene: GNS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNS were set to Mucopolysaccharidosis IIId
Additional findings_Paediatric v0.0 GNPTG Zornitza Stark gene: GNPTG was added
gene: GNPTG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPTG were set to Mucolipidosis III gamma
Additional findings_Paediatric v0.0 GNPTAB Zornitza Stark gene: GNPTAB was added
gene: GNPTAB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPTAB were set to Mucolipidosis II
Additional findings_Paediatric v0.0 GNE Zornitza Stark gene: GNE was added
gene: GNE was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNE were set to Inclusion body myopathy
Additional findings_Paediatric v0.0 GNAS Zornitza Stark Added phenotypes Pseudopseudohypoparathyroidism for gene: GNAS
Additional findings_Paediatric v0.0 GNAS Zornitza Stark gene: GNAS was added
gene: GNAS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GNAS was set to Unknown
Phenotypes for gene: GNAS were set to Pseudohypoparathyroidism
Additional findings_Paediatric v0.0 GLUD1 Zornitza Stark gene: GLUD1 was added
gene: GLUD1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GLUD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GLUD1 were set to Hyperinsulinism
Additional findings_Paediatric v0.0 GLRA1 Zornitza Stark gene: GLRA1 was added
gene: GLRA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GLRA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GLRA1 were set to Hyperekplexia, hereditary 1, autosomal dominant or recessive
Additional findings_Paediatric v0.0 GLI3 Zornitza Stark gene: GLI3 was added
gene: GLI3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GLI3 were set to Greig cephalopolysyndactyly syndrome
Additional findings_Paediatric v0.0 GLDC Zornitza Stark gene: GLDC was added
gene: GLDC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLDC were set to Glycine encephalopathy
Additional findings_Paediatric v0.0 GLB1 Zornitza Stark gene: GLB1 was added
gene: GLB1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLB1 were set to Gangliosidosis GM1
Additional findings_Paediatric v0.0 GLA Zornitza Stark gene: GLA was added
gene: GLA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GLA were set to Fabry disease
Additional findings_Paediatric v0.0 GJC2 Zornitza Stark gene: GJC2 was added
gene: GJC2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GJC2 were set to Pelizaeus-Merzbacher-like disease
Additional findings_Paediatric v0.0 GJB2 Zornitza Stark Mode of inheritance for gene GJB2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Deafness and palmoplantar keratoderma for gene: GJB2
Additional findings_Paediatric v0.0 GJB2 Zornitza Stark gene: GJB2 was added
gene: GJB2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GJB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GJB2 were set to Deafness
Additional findings_Paediatric v0.0 GJB1 Zornitza Stark gene: GJB1 was added
gene: GJB1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GJB1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GJB1 were set to Charcot-Marie-Tooth neuropathy
Additional findings_Paediatric v0.0 GJA1 Zornitza Stark gene: GJA1 was added
gene: GJA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GJA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GJA1 were set to Oculodentodigital dysplasia
Additional findings_Paediatric v0.0 GIPC3 Zornitza Stark gene: GIPC3 was added
gene: GIPC3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GIPC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GIPC3 were set to Hearing loss
Additional findings_Paediatric v0.0 GFPT1 Zornitza Stark gene: GFPT1 was added
gene: GFPT1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFPT1 were set to Congenital myasthenic syndrome, limb-girdle
Additional findings_Paediatric v0.0 GFM1 Zornitza Stark gene: GFM1 was added
gene: GFM1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFM1 were set to Combined oxidative phosphorylation deficiency 1
Additional findings_Paediatric v0.0 GFAP Zornitza Stark gene: GFAP was added
gene: GFAP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GFAP were set to Alexander disease
Additional findings_Paediatric v0.0 GDAP1 Zornitza Stark gene: GDAP1 was added
gene: GDAP1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GDAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GDAP1 were set to Charcot-Marie-Tooth disease
Additional findings_Paediatric v0.0 GCK Zornitza Stark gene: GCK was added
gene: GCK was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GCK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GCK were set to Hyperinsulinemic hypoglycemia, familial
Additional findings_Paediatric v0.0 GCDH Zornitza Stark gene: GCDH was added
gene: GCDH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GCDH were set to Glutaricaciduria, type I
Additional findings_Paediatric v0.0 GBE1 Zornitza Stark gene: GBE1 was added
gene: GBE1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBE1 were set to Glycogen storage disease IV
Additional findings_Paediatric v0.0 GBA Zornitza Stark gene: GBA was added
gene: GBA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBA were set to Gaucher disease 1
Additional findings_Paediatric v0.0 GATA4 Zornitza Stark gene: GATA4 was added
gene: GATA4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GATA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GATA4 were set to Congenital heart defects
Additional findings_Paediatric v0.0 GATA1 Zornitza Stark gene: GATA1 was added
gene: GATA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GATA1 were set to Dyserythropoietic anemia with thrombocytopenia
Additional findings_Paediatric v0.0 GAN Zornitza Stark gene: GAN was added
gene: GAN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAN were set to Giant axonal neuropathy
Additional findings_Paediatric v0.0 GALT Zornitza Stark gene: GALT was added
gene: GALT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALT were set to Galactosaemia
Additional findings_Paediatric v0.0 GALNS Zornitza Stark gene: GALNS was added
gene: GALNS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALNS were set to Mucopolysaccharidosis IVA
Additional findings_Paediatric v0.0 GALK1 Zornitza Stark gene: GALK1 was added
gene: GALK1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALK1 were set to Galactokinase deficiency with cataracts
Additional findings_Paediatric v0.0 GALC Zornitza Stark gene: GALC was added
gene: GALC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALC were set to Krabbe disease
Additional findings_Paediatric v0.0 GAA Zornitza Stark gene: GAA was added
gene: GAA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAA were set to Glycogen storage disease II
Additional findings_Paediatric v0.0 G6PD Zornitza Stark gene: G6PD was added
gene: G6PD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: G6PD were set to Glucose-6-phosphate dehydrogenase deficiency
Additional findings_Paediatric v0.0 G6PC3 Zornitza Stark gene: G6PC3 was added
gene: G6PC3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: G6PC3 were set to Neutropaenia, congenital
Additional findings_Paediatric v0.0 G6PC Zornitza Stark gene: G6PC was added
gene: G6PC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: G6PC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: G6PC were set to Glycogen storage disease Ia
Additional findings_Paediatric v0.0 FXN Zornitza Stark gene: FXN was added
gene: FXN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FXN were set to Friedreich ataxia
Additional findings_Paediatric v0.0 FUCA1 Zornitza Stark gene: FUCA1 was added
gene: FUCA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FUCA1 were set to Fucosidosis
Additional findings_Paediatric v0.0 FTL Zornitza Stark gene: FTL was added
gene: FTL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FTL were set to Neuroferritinopathy
Additional findings_Paediatric v0.0 FRAS1 Zornitza Stark gene: FRAS1 was added
gene: FRAS1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FRAS1 were set to Fraser syndrome
Additional findings_Paediatric v0.0 FOXP3 Zornitza Stark gene: FOXP3 was added
gene: FOXP3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FOXP3 were set to IPEX syndrome
Additional findings_Paediatric v0.0 FOXF1 Zornitza Stark gene: FOXF1 was added
gene: FOXF1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FOXF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FOXF1 were set to Alveolar capillary dysplasia with misalignment of pulmonary veins
Additional findings_Paediatric v0.0 FOXC2 Zornitza Stark gene: FOXC2 was added
gene: FOXC2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FOXC2 were set to Lymphoedema, primary
Additional findings_Paediatric v0.0 FOXC1 Zornitza Stark gene: FOXC1 was added
gene: FOXC1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FOXC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FOXC1 were set to Axenfeld-Rieger syndrome
Additional findings_Paediatric v0.0 FLNA Zornitza Stark gene: FLNA was added
gene: FLNA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FLNA were set to Otopalatodigital spectrum disorder
Additional findings_Paediatric v0.0 FLCN Zornitza Stark gene: FLCN was added
gene: FLCN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FLCN were set to Birt-Hogg-Dube syndrome
Additional findings_Paediatric v0.0 FKTN Zornitza Stark Added phenotypes Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies for gene: FKTN
Additional findings_Paediatric v0.0 FKTN Zornitza Stark gene: FKTN was added
gene: FKTN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKTN were set to Muscular dystrophy, Fukuyama
Additional findings_Paediatric v0.0 FKRP Zornitza Stark Added phenotypes Muscle-eye-brain disease for gene: FKRP
Additional findings_Paediatric v0.0 FKRP Zornitza Stark gene: FKRP was added
gene: FKRP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKRP were set to Muscular dystrophy, limb girdle 2I
Additional findings_Paediatric v0.0 FHL1 Zornitza Stark gene: FHL1 was added
gene: FHL1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FHL1 were set to Emery-Dreifuss muscular dystrophy
Additional findings_Paediatric v0.0 FH Zornitza Stark gene: FH was added
gene: FH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FH were set to Fumarase deficiency
Additional findings_Paediatric v0.0 FGG Zornitza Stark gene: FGG was added
gene: FGG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FGG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGG were set to Afibrinogenaemia
Additional findings_Paediatric v0.0 FGFR3 Zornitza Stark Added phenotypes Muenke syndrome for gene: FGFR3
Additional findings_Paediatric v0.0 FGFR3 Zornitza Stark Added phenotypes Thanatophoric dysplasia type 1 for gene: FGFR3
Additional findings_Paediatric v0.0 FGFR3 Zornitza Stark Added phenotypes Crouzon syndrome with acanthosis nigricans for gene: FGFR3
Additional findings_Paediatric v0.0 FGFR3 Zornitza Stark Added phenotypes Hypochondroplasia for gene: FGFR3
Additional findings_Paediatric v0.0 FGFR3 Zornitza Stark gene: FGFR3 was added
gene: FGFR3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGFR3 were set to Achondroplasia
Additional findings_Paediatric v0.0 FGFR2 Zornitza Stark Added phenotypes Jackson-Weiss syndrome for gene: FGFR2
Additional findings_Paediatric v0.0 FGFR2 Zornitza Stark Added phenotypes Beare-Stevenson cutis gyrata syndrome for gene: FGFR2
Additional findings_Paediatric v0.0 FGFR2 Zornitza Stark Added phenotypes Crouzon syndrome for gene: FGFR2
Additional findings_Paediatric v0.0 FGFR2 Zornitza Stark Added phenotypes Apert syndrome for gene: FGFR2
Additional findings_Paediatric v0.0 FGFR2 Zornitza Stark gene: FGFR2 was added
gene: FGFR2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGFR2 were set to Pfeiffer syndrome
Additional findings_Paediatric v0.0 FGFR1 Zornitza Stark gene: FGFR1 was added
gene: FGFR1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGFR1 were set to Kallmann syndrome
Additional findings_Paediatric v0.0 FGF3 Zornitza Stark gene: FGF3 was added
gene: FGF3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FGF3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGF3 were set to Deafness, congenital with inner ear agenesis, microtia, and microdontia
Additional findings_Paediatric v0.0 FGD4 Zornitza Stark gene: FGD4 was added
gene: FGD4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FGD4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGD4 were set to Charcot-Marie-Tooth disease
Additional findings_Paediatric v0.0 FGD1 Zornitza Stark gene: FGD1 was added
gene: FGD1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FGD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FGD1 were set to Aarskog-Scott syndrome
Additional findings_Paediatric v0.0 FGB Zornitza Stark gene: FGB was added
gene: FGB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FGB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGB were set to Afibrinogenaemia
Additional findings_Paediatric v0.0 FGA Zornitza Stark gene: FGA was added
gene: FGA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGA were set to Afibrinogenaemia
Additional findings_Paediatric v0.0 FBN2 Zornitza Stark gene: FBN2 was added
gene: FBN2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FBN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FBN2 were set to Contractural arachnodactyly
Additional findings_Paediatric v0.0 FBN1 Zornitza Stark gene: FBN1 was added
gene: FBN1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FBN1 were set to Marfan's syndrome
Additional findings_Paediatric v0.0 FBLN5 Zornitza Stark gene: FBLN5 was added
gene: FBLN5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FBLN5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBLN5 were set to Cutis laxa
Additional findings_Paediatric v0.0 FANCI Zornitza Stark gene: FANCI was added
gene: FANCI was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCI were set to Fanconi anaemia
Additional findings_Paediatric v0.0 FANCG Zornitza Stark gene: FANCG was added
gene: FANCG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCG were set to Fanconi anaemia
Additional findings_Paediatric v0.0 FANCD2 Zornitza Stark gene: FANCD2 was added
gene: FANCD2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCD2 were set to Fanconi anaemia
Additional findings_Paediatric v0.0 FANCC Zornitza Stark gene: FANCC was added
gene: FANCC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCC were set to Fanconi anaemia
Additional findings_Paediatric v0.0 FANCB Zornitza Stark gene: FANCB was added
gene: FANCB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FANCB were set to Fanconi anaemia
Additional findings_Paediatric v0.0 FANCA Zornitza Stark gene: FANCA was added
gene: FANCA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCA were set to Fanconi anaemia
Additional findings_Paediatric v0.0 FAM58A Zornitza Stark gene: FAM58A was added
gene: FAM58A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FAM58A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FAM58A were set to Syndactyly - telecanthus - anogenital and renal malformations
Additional findings_Paediatric v0.0 FAM20C Zornitza Stark gene: FAM20C was added
gene: FAM20C was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM20C were set to Osteosclerotic bone dysplasia
Additional findings_Paediatric v0.0 FAM161A Zornitza Stark gene: FAM161A was added
gene: FAM161A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FAM161A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM161A were set to Retinal dystrophy
Additional findings_Paediatric v0.0 FAM126A Zornitza Stark gene: FAM126A was added
gene: FAM126A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM126A were set to Hypomyelination and congenital cataract
Additional findings_Paediatric v0.0 FAH Zornitza Stark gene: FAH was added
gene: FAH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAH were set to Tyrosinemia, type I
Additional findings_Paediatric v0.0 F9 Zornitza Stark gene: F9 was added
gene: F9 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: F9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: F9 were set to Hemophilia B
Additional findings_Paediatric v0.0 F8 Zornitza Stark gene: F8 was added
gene: F8 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: F8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: F8 were set to Hemophilia A
Additional findings_Paediatric v0.0 F2 Zornitza Stark gene: F2 was added
gene: F2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: F2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: F2 were set to Prothrombin deficiency
Additional findings_Paediatric v0.0 F11 Zornitza Stark gene: F11 was added
gene: F11 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: F11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: F11 were set to Factor XI deficiency
Additional findings_Paediatric v0.0 EZH2 Zornitza Stark gene: EZH2 was added
gene: EZH2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: EZH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EZH2 were set to Weaver syndrome 2
Additional findings_Paediatric v0.0 EYA4 Zornitza Stark gene: EYA4 was added
gene: EYA4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: EYA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EYA4 were set to Deafness, autosomal dominant
Additional findings_Paediatric v0.0 EYA1 Zornitza Stark gene: EYA1 was added
gene: EYA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: EYA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EYA1 were set to Branchiootorenal syndrome
Additional findings_Paediatric v0.0 EXT2 Zornitza Stark gene: EXT2 was added
gene: EXT2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: EXT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EXT2 were set to Exostoses, multiple, type 2
Additional findings_Paediatric v0.0 EXT1 Zornitza Stark gene: EXT1 was added
gene: EXT1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EXT1 were set to Exostoses, multiple, type 1
Additional findings_Paediatric v0.0 EVC2 Zornitza Stark gene: EVC2 was added
gene: EVC2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC2 were set to Ellis-van Creveld syndrome
Additional findings_Paediatric v0.0 EVC Zornitza Stark gene: EVC was added
gene: EVC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC were set to Ellis-van Creveld syndrome
Additional findings_Paediatric v0.0 ETHE1 Zornitza Stark gene: ETHE1 was added
gene: ETHE1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETHE1 were set to Ethylmalonic encephalopathy
Additional findings_Paediatric v0.0 ETFDH Zornitza Stark gene: ETFDH was added
gene: ETFDH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFDH were set to Glutaric acidemia IIC
Additional findings_Paediatric v0.0 ETFB Zornitza Stark gene: ETFB was added
gene: ETFB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFB were set to Glutaric acidemia IIB
Additional findings_Paediatric v0.0 ETFA Zornitza Stark gene: ETFA was added
gene: ETFA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFA were set to Glutaric acidemia IIA
Additional findings_Paediatric v0.0 ESRRB Zornitza Stark gene: ESRRB was added
gene: ESRRB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ESRRB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ESRRB were set to Hearing loss
Additional findings_Paediatric v0.0 ESCO2 Zornitza Stark gene: ESCO2 was added
gene: ESCO2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ESCO2 were set to Roberts syndrome
Additional findings_Paediatric v0.0 ERCC8 Zornitza Stark gene: ERCC8 was added
gene: ERCC8 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC8 were set to Cockayne syndrome
Additional findings_Paediatric v0.0 ERCC6 Zornitza Stark gene: ERCC6 was added
gene: ERCC6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC6 were set to Cockayne syndrome
Additional findings_Paediatric v0.0 ERCC5 Zornitza Stark gene: ERCC5 was added
gene: ERCC5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC5 were set to Xeroderma pigmentosum
Additional findings_Paediatric v0.0 ERCC2 Zornitza Stark gene: ERCC2 was added
gene: ERCC2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC2 were set to Xeroderma pigmentosum
Additional findings_Paediatric v0.0 EPM2A Zornitza Stark gene: EPM2A was added
gene: EPM2A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPM2A were set to Epilepsy, progressive myoclonic 2A (Lafora)
Additional findings_Paediatric v0.0 ENPP1 Zornitza Stark gene: ENPP1 was added
gene: ENPP1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ENPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ENPP1 were set to Arterial calcification, generalized, of infancy, 1
Additional findings_Paediatric v0.0 ENG Zornitza Stark gene: ENG was added
gene: ENG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1
Additional findings_Paediatric v0.0 EMD Zornitza Stark gene: EMD was added
gene: EMD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EMD were set to Muscular dystrophy, Emery-Dreifuss
Additional findings_Paediatric v0.0 ELN Zornitza Stark gene: ELN was added
gene: ELN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ELN were set to Supravalvar aortic stenosis
Additional findings_Paediatric v0.0 ELANE Zornitza Stark gene: ELANE was added
gene: ELANE was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ELANE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ELANE were set to Neutropenia, congenital
Additional findings_Paediatric v0.0 EIF2AK3 Zornitza Stark gene: EIF2AK3 was added
gene: EIF2AK3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2AK3 were set to Wolcott-Rallison syndrome
Additional findings_Paediatric v0.0 EGR2 Zornitza Stark gene: EGR2 was added
gene: EGR2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: EGR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EGR2 were set to Charcot-Marie-Tooth disease
Additional findings_Paediatric v0.0 EFTUD2 Zornitza Stark gene: EFTUD2 was added
gene: EFTUD2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: EFTUD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EFTUD2 were set to Mandibulofacial dysostosis with microcephaly
Additional findings_Paediatric v0.0 EFHC1 Zornitza Stark gene: EFHC1 was added
gene: EFHC1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: EFHC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EFHC1 were set to Myoclonic epilepsy
Additional findings_Paediatric v0.0 EDARADD Zornitza Stark gene: EDARADD was added
gene: EDARADD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: EDARADD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EDARADD were set to Ectodermal dysplasia, hypohidrotic
Additional findings_Paediatric v0.0 EDAR Zornitza Stark gene: EDAR was added
gene: EDAR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: EDAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EDAR were set to Ectodermal dysplasia, hypohidrotic
Additional findings_Paediatric v0.0 EDA Zornitza Stark gene: EDA was added
gene: EDA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EDA were set to Ectodermal dysplasia, hypohidrotic
Additional findings_Paediatric v0.0 DYSF Zornitza Stark Added phenotypes Miyoshi muscular dystrophy 1 for gene: DYSF
Additional findings_Paediatric v0.0 DYSF Zornitza Stark gene: DYSF was added
gene: DYSF was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DYSF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYSF were set to Muscular dystrophy, limb-girdle, type 2B
Additional findings_Paediatric v0.0 DUOX2 Zornitza Stark gene: DUOX2 was added
gene: DUOX2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DUOX2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DUOX2 were set to Thyroid dyshormonogenesis
Additional findings_Paediatric v0.0 DSP Zornitza Stark gene: DSP was added
gene: DSP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DSP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DSP were set to Epidermolysis bullosa, lethal acantholytic
Additional findings_Paediatric v0.0 DPAGT1 Zornitza Stark gene: DPAGT1 was added
gene: DPAGT1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPAGT1 were set to Congenital disorder of glycosylation, type Ij
Additional findings_Paediatric v0.0 DOK7 Zornitza Stark gene: DOK7 was added
gene: DOK7 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOK7 were set to Congenital myasthenic syndrome
Additional findings_Paediatric v0.0 DOCK8 Zornitza Stark gene: DOCK8 was added
gene: DOCK8 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DOCK8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOCK8 were set to Hyper-IgE syndrome
Additional findings_Paediatric v0.0 DNMT3B Zornitza Stark gene: DNMT3B was added
gene: DNMT3B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DNMT3B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNMT3B were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 1
Additional findings_Paediatric v0.0 DNM2 Zornitza Stark Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2M for gene: DNM2
Additional findings_Paediatric v0.0 DNM2 Zornitza Stark gene: DNM2 was added
gene: DNM2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DNM2 were set to Myopathy, centronuclear
Additional findings_Paediatric v0.0 DNAJB6 Zornitza Stark gene: DNAJB6 was added
gene: DNAJB6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DNAJB6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DNAJB6 were set to Muscular dystrophy, limb girdle
Additional findings_Paediatric v0.0 DNAI1 Zornitza Stark gene: DNAI1 was added
gene: DNAI1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DNAI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAI1 were set to Primary ciliary dyskinesia
Additional findings_Paediatric v0.0 DNAH5 Zornitza Stark gene: DNAH5 was added
gene: DNAH5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DNAH5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAH5 were set to Primary ciliary dyskinesia
Additional findings_Paediatric v0.0 DNAH11 Zornitza Stark gene: DNAH11 was added
gene: DNAH11 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DNAH11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAH11 were set to Primary ciliary dyskinesia
Additional findings_Paediatric v0.0 DNAAF1 Zornitza Stark gene: DNAAF1 was added
gene: DNAAF1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DNAAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF1 were set to Primary ciliary dyskinesia
Additional findings_Paediatric v0.0 DMPK Zornitza Stark gene: DMPK was added
gene: DMPK was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DMPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DMPK were set to Myotonic dystrophy 1
Additional findings_Paediatric v0.0 DMP1 Zornitza Stark gene: DMP1 was added
gene: DMP1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DMP1 were set to Hypophosphatemic rickets, AR
Additional findings_Paediatric v0.0 DMD Zornitza Stark Added phenotypes Becker muscular dystrophy for gene: DMD
Additional findings_Paediatric v0.0 DMD Zornitza Stark gene: DMD was added
gene: DMD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DMD were set to Duchenne muscular dystrophy
Additional findings_Paediatric v0.0 DLL3 Zornitza Stark gene: DLL3 was added
gene: DLL3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DLL3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLL3 were set to Spondylocostal dysostosis, autosomal recessive, 1
Additional findings_Paediatric v0.0 DLD Zornitza Stark gene: DLD was added
gene: DLD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLD were set to Maple syrup urine disease, type III
Additional findings_Paediatric v0.0 DHCR7 Zornitza Stark gene: DHCR7 was added
gene: DHCR7 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome
Additional findings_Paediatric v0.0 DGUOK Zornitza Stark gene: DGUOK was added
gene: DGUOK was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome
Additional findings_Paediatric v0.0 DFNB59 Zornitza Stark gene: DFNB59 was added
gene: DFNB59 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DFNB59 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DFNB59 were set to Hearing loss
Additional findings_Paediatric v0.0 DFNA5 Zornitza Stark gene: DFNA5 was added
gene: DFNA5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DFNA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DFNA5 were set to Hearing loss
Additional findings_Paediatric v0.0 DES Zornitza Stark gene: DES was added
gene: DES was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DES was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DES were set to Myopathy, myofibrillar
Additional findings_Paediatric v0.0 DDC Zornitza Stark gene: DDC was added
gene: DDC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency
Additional findings_Paediatric v0.0 DDB2 Zornitza Stark gene: DDB2 was added
gene: DDB2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DDB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDB2 were set to Xeroderma pigmentosum
Additional findings_Paediatric v0.0 DCX Zornitza Stark gene: DCX was added
gene: DCX was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DCX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DCX were set to Lissencephaly, X-linked
Additional findings_Paediatric v0.0 DCLRE1C Zornitza Stark gene: DCLRE1C was added
gene: DCLRE1C was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DCLRE1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCLRE1C were set to Severe combined immunodeficiency, Athabascan type
Additional findings_Paediatric v0.0 DBT Zornitza Stark gene: DBT was added
gene: DBT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DBT were set to Maple syrup urine disease
Additional findings_Paediatric v0.0 D2HGDH Zornitza Stark gene: D2HGDH was added
gene: D2HGDH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: D2HGDH were set to D-2-hydroxyglutaric aciduria
Additional findings_Paediatric v0.0 CYP4F22 Zornitza Stark gene: CYP4F22 was added
gene: CYP4F22 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP4F22 were set to Ichthyosis, congenital, autosomal recessive
Additional findings_Paediatric v0.0 CYP27B1 Zornitza Stark gene: CYP27B1 was added
gene: CYP27B1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CYP27B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP27B1 were set to Vitamin D-dependent rickets, type I
Additional findings_Paediatric v0.0 CYP27A1 Zornitza Stark gene: CYP27A1 was added
gene: CYP27A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis
Additional findings_Paediatric v0.0 CYP21A2 Zornitza Stark gene: CYP21A2 was added
gene: CYP21A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CYP21A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP21A2 were set to Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
Additional findings_Paediatric v0.0 CYP11B1 Zornitza Stark gene: CYP11B1 was added
gene: CYP11B1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CYP11B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP11B1 were set to Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
Additional findings_Paediatric v0.0 CYP11A1 Zornitza Stark gene: CYP11A1 was added
gene: CYP11A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CYP11A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP11A1 were set to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete
Additional findings_Paediatric v0.0 CYBB Zornitza Stark gene: CYBB was added
gene: CYBB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CYBB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CYBB were set to Chronic granulomatous disease
Additional findings_Paediatric v0.0 CYBA Zornitza Stark gene: CYBA was added
gene: CYBA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CYBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYBA were set to Chronic granulomatous disease
Additional findings_Paediatric v0.0 CUL7 Zornitza Stark gene: CUL7 was added
gene: CUL7 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CUL7 were set to 3-M syndrome
Additional findings_Paediatric v0.0 CUBN Zornitza Stark gene: CUBN was added
gene: CUBN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CUBN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CUBN were set to Megaloblastic anemia-1, Finnish type
Additional findings_Paediatric v0.0 CTSK Zornitza Stark gene: CTSK was added
gene: CTSK was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSK were set to Pycnodysostosis
Additional findings_Paediatric v0.0 CTSD Zornitza Stark gene: CTSD was added
gene: CTSD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CTSD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSD were set to Ceroid lipofuscinosis, neuronal, 10
Additional findings_Paediatric v0.0 CTNS Zornitza Stark gene: CTNS was added
gene: CTNS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTNS were set to Cystinosis
Additional findings_Paediatric v0.0 CTC1 Zornitza Stark gene: CTC1 was added
gene: CTC1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTC1 were set to Coats plus syndrome
Additional findings_Paediatric v0.0 CSTB Zornitza Stark gene: CSTB was added
gene: CSTB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSTB were set to Epilepsy, progressive myoclonic 1A
Additional findings_Paediatric v0.0 CSF2RA Zornitza Stark gene: CSF2RA was added
gene: CSF2RA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CSF2RA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CSF2RA were set to Pulmonary alveolar proteinosis
Additional findings_Paediatric v0.0 CRYAB Zornitza Stark gene: CRYAB was added
gene: CRYAB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CRYAB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CRYAB were set to Myofibrillar myopathy
Additional findings_Paediatric v0.0 CRTAP Zornitza Stark gene: CRTAP was added
gene: CRTAP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CRTAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRTAP were set to Osteogenesis imperfecta, type VII
Additional findings_Paediatric v0.0 CRLF1 Zornitza Stark gene: CRLF1 was added
gene: CRLF1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CRLF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRLF1 were set to Crisponi syndrome
Additional findings_Paediatric v0.0 CREBBP Zornitza Stark gene: CREBBP was added
gene: CREBBP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CREBBP were set to Rubinstein-Taybi syndrome
Additional findings_Paediatric v0.0 CPT2 Zornitza Stark gene: CPT2 was added
gene: CPT2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPT2 were set to Carnitine palmitoyltransferase 2 deficiency
Additional findings_Paediatric v0.0 CPT1A Zornitza Stark gene: CPT1A was added
gene: CPT1A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPT1A were set to Carnitine palmitoyltransferase I deficiency
Additional findings_Paediatric v0.0 CPS1 Zornitza Stark gene: CPS1 was added
gene: CPS1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency
Additional findings_Paediatric v0.0 COLQ Zornitza Stark gene: COLQ was added
gene: COLQ was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COLQ were set to Congenital myasthenic syndrome
Additional findings_Paediatric v0.0 COL7A1 Zornitza Stark gene: COL7A1 was added
gene: COL7A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: COL7A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL7A1 were set to Epidermolysis bullosa dystrophica
Additional findings_Paediatric v0.0 COL6A3 Zornitza Stark gene: COL6A3 was added
gene: COL6A3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL6A3 were set to Ullrich congenital muscular dystrophy
Additional findings_Paediatric v0.0 COL6A2 Zornitza Stark gene: COL6A2 was added
gene: COL6A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: COL6A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL6A2 were set to Ullrich congenital muscular dystrophy
Additional findings_Paediatric v0.0 COL6A1 Zornitza Stark gene: COL6A1 was added
gene: COL6A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: COL6A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL6A1 were set to Ullrich congenital muscular dystrophy
Additional findings_Paediatric v0.0 COL5A2 Zornitza Stark gene: COL5A2 was added
gene: COL5A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: COL5A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL5A2 were set to Ehlers-Danlos syndrome
Additional findings_Paediatric v0.0 COL5A1 Zornitza Stark gene: COL5A1 was added
gene: COL5A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: COL5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL5A1 were set to Ehlers-Danlos syndrome, type I
Additional findings_Paediatric v0.0 COL4A5 Zornitza Stark gene: COL4A5 was added
gene: COL4A5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: COL4A5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: COL4A5 were set to Alport syndrome
Additional findings_Paediatric v0.0 COL4A4 Zornitza Stark gene: COL4A4 was added
gene: COL4A4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: COL4A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL4A4 were set to Alport syndrome
Additional findings_Paediatric v0.0 COL4A3 Zornitza Stark gene: COL4A3 was added
gene: COL4A3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: COL4A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL4A3 were set to Alport syndrome
Additional findings_Paediatric v0.0 COL3A1 Zornitza Stark gene: COL3A1 was added
gene: COL3A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: COL3A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL3A1 were set to Ehlers-Danlos syndrome, type IV
Additional findings_Paediatric v0.0 COL2A1 Zornitza Stark gene: COL2A1 was added
gene: COL2A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL2A1 were set to Stickler syndrome
Additional findings_Paediatric v0.0 COL1A2 Zornitza Stark gene: COL1A2 was added
gene: COL1A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: COL1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL1A2 were set to Osteogenesis imperfecta, type II
Additional findings_Paediatric v0.0 COL1A1 Zornitza Stark gene: COL1A1 was added
gene: COL1A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL1A1 were set to Osteogenesis imperfecta, type I
Additional findings_Paediatric v0.0 COL17A1 Zornitza Stark gene: COL17A1 was added
gene: COL17A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: COL17A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL17A1 were set to Epidermolysis bullosa, junctional, non-Herlitz type
Additional findings_Paediatric v0.0 COL11A2 Zornitza Stark gene: COL11A2 was added
gene: COL11A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: COL11A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL11A2 were set to Otospondylomegaepiphyseal dysplasia
Additional findings_Paediatric v0.0 COL11A1 Zornitza Stark gene: COL11A1 was added
gene: COL11A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: COL11A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL11A1 were set to Stickler syndrome
Additional findings_Paediatric v0.0 COCH Zornitza Stark gene: COCH was added
gene: COCH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: COCH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COCH were set to Deafness, non-syndromic, autosomal dominant
Additional findings_Paediatric v0.0 CNGB3 Zornitza Stark gene: CNGB3 was added
gene: CNGB3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CNGB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNGB3 were set to Achromatopsia-3
Additional findings_Paediatric v0.0 CLRN1 Zornitza Stark gene: CLRN1 was added
gene: CLRN1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CLRN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLRN1 were set to Usher syndrome, type 3A
Additional findings_Paediatric v0.0 CLN8 Zornitza Stark gene: CLN8 was added
gene: CLN8 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN8 were set to Ceroid lipofuscinosis, neuronal, 8
Additional findings_Paediatric v0.0 CLN6 Zornitza Stark gene: CLN6 was added
gene: CLN6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN6 were set to Ceroid lipofuscinosis, neuronal, 6
Additional findings_Paediatric v0.0 CLN5 Zornitza Stark gene: CLN5 was added
gene: CLN5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN5 were set to Ceroid lipofuscinosis, neuronal, 5
Additional findings_Paediatric v0.0 CLN3 Zornitza Stark gene: CLN3 was added
gene: CLN3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN3 were set to Ceroid lipofuscinosis, neuronal, 3
Additional findings_Paediatric v0.0 CLDN19 Zornitza Stark gene: CLDN19 was added
gene: CLDN19 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLDN19 were set to Hypomagnesemia 5, renal, with ocular involvement
Additional findings_Paediatric v0.0 CLDN14 Zornitza Stark gene: CLDN14 was added
gene: CLDN14 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CLDN14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLDN14 were set to Hearing loss, non-syndromic, autosomal recessive
Additional findings_Paediatric v0.0 CLCN5 Zornitza Stark gene: CLCN5 was added
gene: CLCN5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CLCN5 were set to Dent disease
Additional findings_Paediatric v0.0 CHRNG Zornitza Stark gene: CHRNG was added
gene: CHRNG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNG were set to Pterygium syndrome
Additional findings_Paediatric v0.0 CHRNE Zornitza Stark gene: CHRNE was added
gene: CHRNE was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CHRNE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNE were set to Congenital myasthenic syndrome
Additional findings_Paediatric v0.0 CHRND Zornitza Stark gene: CHRND was added
gene: CHRND was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CHRND was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRND were set to Congenital myasthenic syndrome
Additional findings_Paediatric v0.0 CHRNA1 Zornitza Stark gene: CHRNA1 was added
gene: CHRNA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CHRNA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNA1 were set to Congenital myasthenic syndrome
Additional findings_Paediatric v0.0 CHM Zornitza Stark gene: CHM was added
gene: CHM was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CHM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CHM were set to Choroideremia
Additional findings_Paediatric v0.0 CHKB Zornitza Stark gene: CHKB was added
gene: CHKB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type
Additional findings_Paediatric v0.0 CHD7 Zornitza Stark gene: CHD7 was added
gene: CHD7 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CHD7 were set to CHARGE syndrome
Additional findings_Paediatric v0.0 CHD2 Zornitza Stark gene: CHD2 was added
gene: CHD2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CHD2 were set to Developmental delay, intellectual disability, epilepsy
Additional findings_Paediatric v0.0 CHAT Zornitza Stark gene: CHAT was added
gene: CHAT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHAT were set to Congenital myasthenic syndrome
Additional findings_Paediatric v0.0 CFTR Zornitza Stark gene: CFTR was added
gene: CFTR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFTR were set to Cystic fibrosis
Additional findings_Paediatric v0.0 CFP Zornitza Stark gene: CFP was added
gene: CFP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CFP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CFP were set to Properdin deficiency, X-linked
Additional findings_Paediatric v0.0 CFL2 Zornitza Stark gene: CFL2 was added
gene: CFL2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CFL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFL2 were set to Nemaline myopathy
Additional findings_Paediatric v0.0 CFC1 Zornitza Stark gene: CFC1 was added
gene: CFC1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CFC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CFC1 were set to Congenital heart defects
Additional findings_Paediatric v0.0 CEP290 Zornitza Stark gene: CEP290 was added
gene: CEP290 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP290 were set to Joubert syndrome
Additional findings_Paediatric v0.0 CEP152 Zornitza Stark gene: CEP152 was added
gene: CEP152 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CEP152 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP152 were set to Seckel syndrome
Additional findings_Paediatric v0.0 CDSN Zornitza Stark gene: CDSN was added
gene: CDSN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CDSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDSN were set to Hypotrichosis
Additional findings_Paediatric v0.0 CDKN1C Zornitza Stark gene: CDKN1C was added
gene: CDKN1C was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDKN1C were set to Beckwith-Wiedemann syndrome
Additional findings_Paediatric v0.0 CDKL5 Zornitza Stark gene: CDKL5 was added
gene: CDKL5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CDKL5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CDKL5 were set to Epileptic encephalopathy, early infantile, 2
Additional findings_Paediatric v0.0 CDH23 Zornitza Stark Added phenotypes Usher syndrome, type 1D for gene: CDH23
Additional findings_Paediatric v0.0 CDH23 Zornitza Stark gene: CDH23 was added
gene: CDH23 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CDH23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDH23 were set to Deafness, autosomal recessive
Additional findings_Paediatric v0.0 CDAN1 Zornitza Stark gene: CDAN1 was added
gene: CDAN1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CDAN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDAN1 were set to Anemia, congenital dyserythropoietic, type I
Additional findings_Paediatric v0.0 CD40LG Zornitza Stark gene: CD40LG was added
gene: CD40LG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CD40LG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CD40LG were set to Immunodeficiency, X-linked, with hyper-IgM
Additional findings_Paediatric v0.0 CCDC40 Zornitza Stark gene: CCDC40 was added
gene: CCDC40 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CCDC40 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC40 were set to Primary ciliary dyskinesia
Additional findings_Paediatric v0.0 CCDC39 Zornitza Stark gene: CCDC39 was added
gene: CCDC39 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CCDC39 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC39 were set to Primary ciliary dyskinesia
Additional findings_Paediatric v0.0 CC2D2A Zornitza Stark gene: CC2D2A was added
gene: CC2D2A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CC2D2A were set to Joubert syndrome
Additional findings_Paediatric v0.0 CBS Zornitza Stark gene: CBS was added
gene: CBS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CBS were set to Homocystinuria, B6-responsive and nonresponsive types
Additional findings_Paediatric v0.0 CBL Zornitza Stark gene: CBL was added
gene: CBL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CBL were set to Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia
Additional findings_Paediatric v0.0 CAV3 Zornitza Stark Added phenotypes Caveolinopathy for gene: CAV3
Additional findings_Paediatric v0.0 CAV3 Zornitza Stark gene: CAV3 was added
gene: CAV3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CAV3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CAV3 were set to Muscular dystrophy, limb-girdle, type IC,
Additional findings_Paediatric v0.0 CASQ2 Zornitza Stark gene: CASQ2 was added
gene: CASQ2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CASQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CASQ2 were set to Ventricular tachycardia, catecholaminergic polymorphic
Additional findings_Paediatric v0.0 CASK Zornitza Stark gene: CASK was added
gene: CASK was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CASK were set to Mental retardation and microcephaly with pontine and cerebellar hypoplasia
Additional findings_Paediatric v0.0 CAPN3 Zornitza Stark gene: CAPN3 was added
gene: CAPN3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CAPN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAPN3 were set to Muscular dystrophy, limb-girdle, type 2A
Additional findings_Paediatric v0.0 CACNA1F Zornitza Stark gene: CACNA1F was added
gene: CACNA1F was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CACNA1F was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CACNA1F were set to Night blindness, congenital stationary (complete), 1A, X-linked
Additional findings_Paediatric v0.0 CACNA1A Zornitza Stark gene: CACNA1A was added
gene: CACNA1A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CACNA1A were set to Episodic ataxia, type 2
Additional findings_Paediatric v0.0 CA2 Zornitza Stark gene: CA2 was added
gene: CA2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CA2 were set to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
Additional findings_Paediatric v0.0 TWNK Zornitza Stark gene: TWNK was added
gene: TWNK was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TWNK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TWNK were set to Spinocerebellar ataxia infantile-onset
Additional findings_Paediatric v0.0 BTK Zornitza Stark gene: BTK was added
gene: BTK was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BTK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: BTK were set to Agammaglobulinemia, X-linked 1
Additional findings_Paediatric v0.0 BTD Zornitza Stark gene: BTD was added
gene: BTD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BTD were set to Biotinidase deficiency
Additional findings_Paediatric v0.0 BSND Zornitza Stark gene: BSND was added
gene: BSND was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BSND were set to Bartter syndrome with sensorineural deafness
Additional findings_Paediatric v0.0 BSCL2 Zornitza Stark gene: BSCL2 was added
gene: BSCL2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BSCL2 were set to Berardinelli-Seip lipodystrophy
Additional findings_Paediatric v0.0 BRCA2 Zornitza Stark gene: BRCA2 was added
gene: BRCA2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BRCA2 were set to Fanconi anemia, complementation group D1
Additional findings_Paediatric v0.0 BRAF Zornitza Stark gene: BRAF was added
gene: BRAF was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BRAF were set to Cardiofaciocutaneous syndrome
Additional findings_Paediatric v0.0 BMPR1A Zornitza Stark gene: BMPR1A was added
gene: BMPR1A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BMPR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BMPR1A were set to Juvenile polyposis syndrome
Additional findings_Paediatric v0.0 BLM Zornitza Stark gene: BLM was added
gene: BLM was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLM were set to Bloom syndrome
Additional findings_Paediatric v0.0 BIN1 Zornitza Stark gene: BIN1 was added
gene: BIN1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BIN1 were set to Myopathy, centronuclear, autosomal recessive
Additional findings_Paediatric v0.0 BICD2 Zornitza Stark gene: BICD2 was added
gene: BICD2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BICD2 were set to Congenital spinal muscular atrophy
Additional findings_Paediatric v0.0 BCS1L Zornitza Stark gene: BCS1L was added
gene: BCS1L was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCS1L were set to Complex 3 deficiency
Additional findings_Paediatric v0.0 BCKDHB Zornitza Stark gene: BCKDHB was added
gene: BCKDHB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCKDHB were set to Maple syrup urine disease
Additional findings_Paediatric v0.0 BCKDHA Zornitza Stark gene: BCKDHA was added
gene: BCKDHA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCKDHA were set to Maple syrup urine disease
Additional findings_Paediatric v0.0 BBS9 Zornitza Stark gene: BBS9 was added
gene: BBS9 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS9 were set to Bardet-Biedl syndrome
Additional findings_Paediatric v0.0 BBS7 Zornitza Stark gene: BBS7 was added
gene: BBS7 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS7 were set to Bardet-Biedl syndrome
Additional findings_Paediatric v0.0 BBS5 Zornitza Stark gene: BBS5 was added
gene: BBS5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS5 were set to Bardet-Biedl syndrome
Additional findings_Paediatric v0.0 BBS4 Zornitza Stark gene: BBS4 was added
gene: BBS4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS4 were set to Bardet-Biedl syndrome
Additional findings_Paediatric v0.0 BBS2 Zornitza Stark gene: BBS2 was added
gene: BBS2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS2 were set to Bardet-Biedl syndrome
Additional findings_Paediatric v0.0 BBS12 Zornitza Stark gene: BBS12 was added
gene: BBS12 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS12 were set to Bardet-Biedl syndrome
Additional findings_Paediatric v0.0 BBS10 Zornitza Stark gene: BBS10 was added
gene: BBS10 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS10 were set to Bardet-Biedl syndrome
Additional findings_Paediatric v0.0 BBS1 Zornitza Stark gene: BBS1 was added
gene: BBS1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS1 were set to Bardet-Biedl syndrome
Additional findings_Paediatric v0.0 BAAT Zornitza Stark gene: BAAT was added
gene: BAAT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BAAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BAAT were set to Bile acid amidation defect
Additional findings_Paediatric v0.0 B3GLCT Zornitza Stark gene: B3GLCT was added
gene: B3GLCT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GLCT were set to Peters-Plus syndrome
Additional findings_Paediatric v0.0 AVPR2 Zornitza Stark gene: AVPR2 was added
gene: AVPR2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: AVPR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AVPR2 were set to Diabetes insipidus, nephrogenic
Additional findings_Paediatric v0.0 AUH Zornitza Stark gene: AUH was added
gene: AUH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AUH were set to 3-methylglutaconic aciduria, type I
Additional findings_Paediatric v0.0 ATRX Zornitza Stark gene: ATRX was added
gene: ATRX was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATRX were set to Alpha-thalassemia/mental retardation syndrome
Additional findings_Paediatric v0.0 ATP8B1 Zornitza Stark gene: ATP8B1 was added
gene: ATP8B1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ATP8B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP8B1 were set to Cholestasis, progressive familial intrahepatic 1
Additional findings_Paediatric v0.0 ATP7B Zornitza Stark gene: ATP7B was added
gene: ATP7B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP7B were set to Wilson disease
Additional findings_Paediatric v0.0 ATP7A Zornitza Stark Added phenotypes Occipital horn syndrome for gene: ATP7A
Additional findings_Paediatric v0.0 ATP7A Zornitza Stark gene: ATP7A was added
gene: ATP7A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATP7A were set to Menkes syndrome
Additional findings_Paediatric v0.0 ATP6V1B1 Zornitza Stark gene: ATP6V1B1 was added
gene: ATP6V1B1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP6V1B1 were set to Renal tubular acidosis & hearing loss
Additional findings_Paediatric v0.0 ATP6V0A2 Zornitza Stark gene: ATP6V0A2 was added
gene: ATP6V0A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP6V0A2 were set to Cutis laxa, autosomal recessive, type IIA
Additional findings_Paediatric v0.0 ATP2A1 Zornitza Stark gene: ATP2A1 was added
gene: ATP2A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ATP2A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP2A1 were set to Brody myopathy
Additional findings_Paediatric v0.0 ATP1A2 Zornitza Stark gene: ATP1A2 was added
gene: ATP1A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ATP1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATP1A2 were set to Hemiplegic migraine
Additional findings_Paediatric v0.0 ATM Zornitza Stark gene: ATM was added
gene: ATM was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATM were set to Ataxia-telangiectasia
Additional findings_Paediatric v0.0 ASS1 Zornitza Stark gene: ASS1 was added
gene: ASS1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASS1 were set to Citrullinemia
Additional findings_Paediatric v0.0 ASPA Zornitza Stark gene: ASPA was added
gene: ASPA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASPA were set to Canavan disease
Additional findings_Paediatric v0.0 ASL Zornitza Stark gene: ASL was added
gene: ASL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASL were set to Argininosuccinic aciduria
Additional findings_Paediatric v0.0 ARX Zornitza Stark gene: ARX was added
gene: ARX was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARX were set to Lissencephaly, X-linked 2
Additional findings_Paediatric v0.0 ARSB Zornitza Stark gene: ARSB was added
gene: ARSB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSB were set to Mucopolysaccharidosis type VI (Maroteaux-Lamy)
Additional findings_Paediatric v0.0 ARSA Zornitza Stark gene: ARSA was added
gene: ARSA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy
Additional findings_Paediatric v0.0 ARMC4 Zornitza Stark gene: ARMC4 was added
gene: ARMC4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ARMC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARMC4 were set to Primary ciliary dyskinesia
Additional findings_Paediatric v0.0 ARID1B Zornitza Stark gene: ARID1B was added
gene: ARID1B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ARID1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ARID1B were set to Coffin-Siris syndrome
Additional findings_Paediatric v0.0 ARG1 Zornitza Stark gene: ARG1 was added
gene: ARG1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARG1 were set to Arginase deficiency
Additional findings_Paediatric v0.0 ARFGEF2 Zornitza Stark gene: ARFGEF2 was added
gene: ARFGEF2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ARFGEF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARFGEF2 were set to Periventricular heterotopia with microcephaly
Additional findings_Paediatric v0.0 AR Zornitza Stark gene: AR was added
gene: AR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: AR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AR were set to Androgen insensitivity
Additional findings_Paediatric v0.0 APTX Zornitza Stark gene: APTX was added
gene: APTX was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APTX were set to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Additional findings_Paediatric v0.0 APOB Zornitza Stark gene: APOB was added
gene: APOB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: APOB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APOB were set to Apolipoprotein B deficiency
Additional findings_Paediatric v0.0 APC Zornitza Stark Added phenotypes Adenomatous polyposis coli, attenuated for gene: APC
Additional findings_Paediatric v0.0 APC Zornitza Stark gene: APC was added
gene: APC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: APC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: APC were set to Adenomatous polyposis coli
Additional findings_Paediatric v0.0 AP3B1 Zornitza Stark gene: AP3B1 was added
gene: AP3B1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP3B1 were set to Hermansky-Pudlak syndrome 2
Additional findings_Paediatric v0.0 ANTXR2 Zornitza Stark gene: ANTXR2 was added
gene: ANTXR2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ANTXR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANTXR2 were set to Hyaline fibromatosis syndrome
Additional findings_Paediatric v0.0 ANO5 Zornitza Stark gene: ANO5 was added
gene: ANO5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ANO5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANO5 were set to Muscular dystrophy, limb-girdle, type 2L
Additional findings_Paediatric v0.0 ANO10 Zornitza Stark gene: ANO10 was added
gene: ANO10 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ANO10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANO10 were set to Spinocerebellar ataxia, autosomal recessive 10
Additional findings_Paediatric v0.0 ANKRD26 Zornitza Stark gene: ANKRD26 was added
gene: ANKRD26 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ANKRD26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANKRD26 were set to Thrombocytopenia 2
Additional findings_Paediatric v0.0 ANKH Zornitza Stark gene: ANKH was added
gene: ANKH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ANKH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANKH were set to Craniometaphyseal dysplasia
Additional findings_Paediatric v0.0 ANK1 Zornitza Stark gene: ANK1 was added
gene: ANK1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ANK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANK1 were set to Spherocytosis
Additional findings_Paediatric v0.0 AMT Zornitza Stark gene: AMT was added
gene: AMT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMT were set to Hyperglycinaemia, non-ketotic
Additional findings_Paediatric v0.0 AMN Zornitza Stark gene: AMN was added
gene: AMN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: AMN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMN were set to Megaloblastic anemia-1, Norwegian type
Additional findings_Paediatric v0.0 AMELX Zornitza Stark gene: AMELX was added
gene: AMELX was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: AMELX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AMELX were set to Amelogenesis imperfecta
Additional findings_Paediatric v0.0 ALX4 Zornitza Stark gene: ALX4 was added
gene: ALX4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ALX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ALX4 were set to Parietal foramina 2
Additional findings_Paediatric v0.0 ALS2 Zornitza Stark gene: ALS2 was added
gene: ALS2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALS2 were set to Amyotrophic lateral sclerosis
Additional findings_Paediatric v0.0 ALPL Zornitza Stark gene: ALPL was added
gene: ALPL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ALPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALPL were set to Hypophosphatasia
Additional findings_Paediatric v0.0 ALOXE3 Zornitza Stark gene: ALOXE3 was added
gene: ALOXE3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ALOXE3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALOXE3 were set to Ichthyosis, congenital, autosomal recessive
Additional findings_Paediatric v0.0 ALOX12B Zornitza Stark gene: ALOX12B was added
gene: ALOX12B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ALOX12B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALOX12B were set to Ichthyosis, congenital, autosomal recessive
Additional findings_Paediatric v0.0 ALMS1 Zornitza Stark gene: ALMS1 was added
gene: ALMS1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALMS1 were set to Alstrom syndrome
Additional findings_Paediatric v0.0 ALG8 Zornitza Stark gene: ALG8 was added
gene: ALG8 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG8 were set to Congenital disorder of glycosylation, type Ih
Additional findings_Paediatric v0.0 ALG6 Zornitza Stark gene: ALG6 was added
gene: ALG6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ALG6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG6 were set to Congenital disorder of glycosylation, type Ic
Additional findings_Paediatric v0.0 ALG3 Zornitza Stark gene: ALG3 was added
gene: ALG3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG3 were set to Congenital disorder of glycosylation, type Id
Additional findings_Paediatric v0.0 ALG12 Zornitza Stark gene: ALG12 was added
gene: ALG12 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG12 were set to Congenital disorder of glycosylation, type Ig
Additional findings_Paediatric v0.0 ALG1 Zornitza Stark gene: ALG1 was added
gene: ALG1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ALG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG1 were set to Congenital disorder of glycosylation, type Ik
Additional findings_Paediatric v0.0 ALDOB Zornitza Stark gene: ALDOB was added
gene: ALDOB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDOB were set to Fructose intolerance
Additional findings_Paediatric v0.0 ALDH5A1 Zornitza Stark gene: ALDH5A1 was added
gene: ALDH5A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH5A1 were set to Succinic semialdehyde dehydrogenase deficiency
Additional findings_Paediatric v0.0 ALDH3A2 Zornitza Stark gene: ALDH3A2 was added
gene: ALDH3A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome
Additional findings_Paediatric v0.0 ALDH18A1 Zornitza Stark gene: ALDH18A1 was added
gene: ALDH18A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ALDH18A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH18A1 were set to Cutis laxa, autosomal recessive, type IIIA
Additional findings_Paediatric v0.0 ALB Zornitza Stark gene: ALB was added
gene: ALB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ALB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALB were set to Analbuminemia
Additional findings_Paediatric v0.0 ALAS2 Zornitza Stark gene: ALAS2 was added
gene: ALAS2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ALAS2 were set to Anemia, sideroblastic, X-linked
Additional findings_Paediatric v0.0 AKR1D1 Zornitza Stark gene: AKR1D1 was added
gene: AKR1D1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AKR1D1 were set to Bile acid synthesis defect, congenital, 2
Additional findings_Paediatric v0.0 AIRE Zornitza Stark gene: AIRE was added
gene: AIRE was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: AIRE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AIRE were set to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia
Additional findings_Paediatric v0.0 AIFM1 Zornitza Stark gene: AIFM1 was added
gene: AIFM1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AIFM1 were set to Cowchock syndrome
Additional findings_Paediatric v0.0 AHI1 Zornitza Stark gene: AHI1 was added
gene: AHI1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AHI1 were set to Joubert syndrome-3
Additional findings_Paediatric v0.0 AGXT Zornitza Stark gene: AGXT was added
gene: AGXT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGXT were set to Hyperoxaluria, primary, type 1
Additional findings_Paediatric v0.0 AGRN Zornitza Stark gene: AGRN was added
gene: AGRN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGRN were set to Myasthenia, limb-girdle, familial
Additional findings_Paediatric v0.0 AGL Zornitza Stark gene: AGL was added
gene: AGL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGL were set to Glycogen storage disease IIIa
Additional findings_Paediatric v0.0 AGA Zornitza Stark gene: AGA was added
gene: AGA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGA were set to Aspartylglucosaminuria
Additional findings_Paediatric v0.0 ADK Zornitza Stark gene: ADK was added
gene: ADK was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ADK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADK were set to Hypermethioninemia due to adenosine kinase deficiency
Additional findings_Paediatric v0.0 ADAR Zornitza Stark Mode of inheritance for gene ADAR was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Dyschromatosis symmetrica hereditaria for gene: ADAR
Additional findings_Paediatric v0.0 ADAR Zornitza Stark gene: ADAR was added
gene: ADAR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome
Additional findings_Paediatric v0.0 ADAMTSL2 Zornitza Stark gene: ADAMTSL2 was added
gene: ADAMTSL2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTSL2 were set to Geleophysic dysplasia 1
Additional findings_Paediatric v0.0 ADAMTS13 Zornitza Stark gene: ADAMTS13 was added
gene: ADAMTS13 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS13 were set to Thrombotic thrombocytopenic purpura, familial
Additional findings_Paediatric v0.0 ADA Zornitza Stark gene: ADA was added
gene: ADA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADA were set to Severe combined immunodeficiency due to ADA deficiency
Additional findings_Paediatric v0.0 ACVRL1 Zornitza Stark gene: ACVRL1 was added
gene: ACVRL1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2
Additional findings_Paediatric v0.0 ACVR1 Zornitza Stark gene: ACVR1 was added
gene: ACVR1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ACVR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACVR1 were set to Fibrodysplasia ossificans progressiva
Additional findings_Paediatric v0.0 ACTN4 Zornitza Stark gene: ACTN4 was added
gene: ACTN4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ACTN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTN4 were set to Glomerulosclerosis, focal segmental, 1
Additional findings_Paediatric v0.0 ACTN1 Zornitza Stark gene: ACTN1 was added
gene: ACTN1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ACTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTN1 were set to Macrothrombocytopenia
Additional findings_Paediatric v0.0 ACTG2 Zornitza Stark gene: ACTG2 was added
gene: ACTG2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ACTG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTG2 were set to Megacystis-microcolon-intestinal hypoperistalsis syndrome
Additional findings_Paediatric v0.0 ACTG1 Zornitza Stark Added phenotypes Baraitser-Winter syndrome for gene: ACTG1
Additional findings_Paediatric v0.0 ACTG1 Zornitza Stark gene: ACTG1 was added
gene: ACTG1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTG1 were set to Deafness, autosomal dominant
Additional findings_Paediatric v0.0 ACTB Zornitza Stark gene: ACTB was added
gene: ACTB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTB were set to Baraitser-Winter syndrome
Additional findings_Paediatric v0.0 ACTA1 Zornitza Stark gene: ACTA1 was added
gene: ACTA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ACTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTA1 were set to Nemaline myopathy
Additional findings_Paediatric v0.0 ACSF3 Zornitza Stark gene: ACSF3 was added
gene: ACSF3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ACSF3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACSF3 were set to Combined malonic and methylmalonic aciduria
Additional findings_Paediatric v0.0 ACOX1 Zornitza Stark gene: ACOX1 was added
gene: ACOX1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ACOX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACOX1 were set to Peroxisomal acyl-CoA oxidase deficiency
Additional findings_Paediatric v0.0 ACE Zornitza Stark gene: ACE was added
gene: ACE was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACE were set to Renal tubular dysgenesis
Additional findings_Paediatric v0.0 ACAT1 Zornitza Stark gene: ACAT1 was added
gene: ACAT1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAT1 were set to Alpha-methylacetoacetic aciduria
Additional findings_Paediatric v0.0 ACADVL Zornitza Stark gene: ACADVL was added
gene: ACADVL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADVL were set to VLCAD deficiency
Additional findings_Paediatric v0.0 ACADM Zornitza Stark gene: ACADM was added
gene: ACADM was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADM were set to Medium chain acyl CoA dehydrogenase deficiency
Additional findings_Paediatric v0.0 ACAD9 Zornitza Stark gene: ACAD9 was added
gene: ACAD9 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAD9 were set to ACAD9 deficiency
Additional findings_Paediatric v0.0 ACAD8 Zornitza Stark gene: ACAD8 was added
gene: ACAD8 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ACAD8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAD8 were set to Isobutyryl-CoA dehydrogenase deficiency
Additional findings_Paediatric v0.0 ABCG5 Zornitza Stark gene: ABCG5 was added
gene: ABCG5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ABCG5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCG5 were set to Sitosterolemia
Additional findings_Paediatric v0.0 ABCD1 Zornitza Stark gene: ABCD1 was added
gene: ABCD1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ABCD1 were set to Adrenoleukodystrophy
Additional findings_Paediatric v0.0 ABCC9 Zornitza Stark gene: ABCC9 was added
gene: ABCC9 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ABCC9 were set to Hypertrichotic osteochondrodysplasia
Additional findings_Paediatric v0.0 ABCC8 Zornitza Stark gene: ABCC8 was added
gene: ABCC8 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ABCC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCC8 were set to Hyperinsulinemic hypoglycemia, familial
Additional findings_Paediatric v0.0 ABCC6 Zornitza Stark gene: ABCC6 was added
gene: ABCC6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCC6 were set to Pseudoxanthoma elasticum
Additional findings_Paediatric v0.0 ABCB4 Zornitza Stark gene: ABCB4 was added
gene: ABCB4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ABCB4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCB4 were set to Cholestasis, progressive familial intrahepatic 3
Additional findings_Paediatric v0.0 ABCB11 Zornitza Stark gene: ABCB11 was added
gene: ABCB11 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCB11 were set to Cholestasis, progressive familial intrahepatic 2
Additional findings_Paediatric v0.0 ABCA4 Zornitza Stark gene: ABCA4 was added
gene: ABCA4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ABCA4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA4 were set to Stargardt disease
Additional findings_Paediatric v0.0 ABCA3 Zornitza Stark gene: ABCA3 was added
gene: ABCA3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ABCA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA3 were set to Surfactant metabolism dysfunction, pulmonary, 3
Additional findings_Paediatric v0.0 ABCA12 Zornitza Stark gene: ABCA12 was added
gene: ABCA12 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ABCA12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA12 were set to Ichthyosis, congenital, autosomal recessive
Additional findings_Paediatric v0.0 AARS Zornitza Stark gene: AARS was added
gene: AARS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: AARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AARS were set to Charcot-Marie-Tooth disease
Additional findings_Paediatric v0.0 AAAS Zornitza Stark gene: AAAS was added
gene: AAAS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AAAS were set to Achalasia-addisonianism-alacrimia syndrome
Additional findings_Paediatric v0.0 Zornitza Stark Added panel Newborn Screening_BabySeq